ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2139C>G (p.Pro713=)

gnomAD frequency: 0.00004  dbSNP: rs746825094
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001422426 SCV001624974 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432171 SCV002729092 likely benign Cardiovascular phenotype 2019-10-25 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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