ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2424C>T (p.Gly808=)

gnomAD frequency: 0.00001  dbSNP: rs764991202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370556 SCV001567074 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476691 SCV002798292 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-02-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298609 SCV004004581 likely benign Cardiovascular phenotype 2023-03-16 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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