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Reported & Literature - Coggle Diagram
Reported & Literature
[PS2]
De Novo variant w/ no family history
w/ Confirmed Maternity & Paternity
[PM6]
De Novo variant w/ no family history
Assumed Paternity & Maternity
[PM3]
For recessive disorders
Variant detected in
trans
w/ a reported pathogenic variant
[PP5]
Laboratory evidence not available
But Reported Pathogenic variant by reputable sources
[BP2]
For fully penetrant dominant disorder
Variant detected in
trans
For pathogenic variant for any inheritance
Variant detected in
cis
[BP6]
Laboratory evidence not available
But Reported Benign variant by reputable sources