ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)

dbSNP: rs772996800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001475559 SCV001679753 likely benign Fanconi anemia 2024-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000931430 SCV002002592 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000931430 SCV004218779 likely benign not provided 2022-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973182 SCV005580737 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.
PreventionGenetics, part of Exact Sciences RCV004738088 SCV005351094 likely benign FANCM-related disorder 2024-04-01 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).

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