ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2415C>T (p.Cys805=)

gnomAD frequency: 0.00003  dbSNP: rs376800693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253464 SCV000307943 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000945628 SCV001091664 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-09-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450773 SCV002736175 likely benign Cardiovascular phenotype 2019-12-26 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.

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