ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2268C>A (p.Arg756=)

gnomAD frequency: 0.00128  dbSNP: rs146061601
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460247 SCV000558901 likely benign Fanconi anemia 2025-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090528 SCV001246132 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FANCM: BP4, BP7
GeneDx RCV001090528 SCV001793387 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800695 SCV002046994 benign not specified 2021-04-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001800695 SCV002067543 likely benign not specified 2021-10-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256302 SCV002527330 likely benign Hereditary cancer-predisposing syndrome 2021-06-04 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV001090528 SCV005211960 likely benign not provided criteria provided, single submitter not provided
Ambry Genetics RCV004975548 SCV005580746 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001090528 SCV001977745 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001090528 SCV001980420 likely benign not provided no assertion criteria provided clinical testing

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