Submissions for variant NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)

gnomAD frequency: 0.00147  dbSNP: rs144215747

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000383479	SCV000547794	likely benign	Fanconi anemia	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000484209	SCV000573452	uncertain significance	not provided	2024-09-15	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in individuals with a personal or family history including breast or other cancers, but also in unaffected controls (PMID: 28881617, 19737859, 34646395, 29351780, 30426508); This variant is associated with the following publications: (PMID: 30426508, 19737859, 29351780, 28881617, 32268276, 29641532, 34646395, 36980780)
Fulgent Genetics, Fulgent Genetics	RCV000763929	SCV000894873	uncertain significance	Spermatogenic failure 28; Premature ovarian failure 15	2018-10-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001292951	SCV001481659	uncertain significance	Spermatogenic failure 28	2020-06-05	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000484209	SCV002011498	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255361	SCV002527313	uncertain significance	Hereditary cancer-predisposing syndrome	2022-03-06	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000484209	SCV004033292	uncertain significance	not provided	2023-07-01	criteria provided, single submitter	clinical testing	FANCM: PM2, BP4
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000484209	SCV001809180	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000484209	SCV001964162	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537776	SCV004740411	likely benign	FANCM-related disorder	2022-04-26	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).