ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1812C>T (p.Asn604=)

gnomAD frequency: 0.00011  dbSNP: rs377473850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002184438 SCV002483777 likely benign Fanconi anemia 2024-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258393 SCV002527320 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-14 criteria provided, single submitter curation
Ambry Genetics RCV004973357 SCV005582868 likely benign Inborn genetic diseases 2024-11-20 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 RCV003151390 SCV003839523 likely benign not specified 2022-12-14 no assertion criteria provided clinical testing

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