ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.642C>T (p.Pro214=)

gnomAD frequency: 0.00006  dbSNP: rs2291558
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721310 SCV000528696 likely benign not provided 2020-11-25 criteria provided, single submitter clinical testing
Invitae RCV000530478 SCV000651120 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001721310 SCV002497553 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7
Ambry Genetics RCV002365534 SCV002658948 likely benign Cardiovascular phenotype 2019-08-27 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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