Submissions for variant NM_020937.4(FANCM):c.159C>T (p.Asp53=)

gnomAD frequency: 0.00046  dbSNP: rs147559750

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000866205	SCV001007269	likely benign	Fanconi anemia	2024-11-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001577827	SCV001805292	likely benign	not provided	2020-11-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001577827	SCV002774161	likely benign	not provided	2022-11-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478967	SCV002794981	likely benign	Spermatogenic failure 28; Premature ovarian failure 15	2021-08-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001577827	SCV005436412	likely benign	not provided	2024-09-01	criteria provided, single submitter	clinical testing	FANCM: BP4, BP7
Ambry Genetics	RCV004973065	SCV005580745	likely benign	Inborn genetic diseases	2024-10-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV004540195	SCV004773058	likely benign	FANCM-related disorder	2022-05-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).