Submissions for variant NM_020937.4(FANCM):c.5577T>C (p.Asn1859=)

gnomAD frequency: 0.00300  dbSNP: rs113831595

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000226114	SCV000290519	benign	Fanconi anemia	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001551145	SCV001771588	likely benign	not provided	2021-09-30	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316300	SCV004015703	benign	Premature ovarian failure 15	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001551145	SCV004134056	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	FANCM: BP4, BS1
Ambry Genetics	RCV004975355	SCV005580741	likely benign	Inborn genetic diseases	2024-10-02	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.
Genetic Services Laboratory, University of Chicago	RCV003150998	SCV003839522	benign	not specified	2022-09-07	no assertion criteria provided	clinical testing