ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)

gnomAD frequency: 0.00006  dbSNP: rs200173413
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088406 SCV000626360 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000538182 SCV001149208 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000538182 SCV002000822 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000538182 SCV004218738 likely benign not provided 2022-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942730 SCV004765545 likely benign FANCM-related condition 2023-02-28 criteria provided, single submitter 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).

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