ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.678C>T (p.Asp226=)

gnomAD frequency: 0.00008  dbSNP: rs769791248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539553 SCV000651135 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV001591260 SCV001816274 likely benign not provided 2020-12-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367922 SCV002661800 likely benign Cardiovascular phenotype 2020-05-11 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.
CeGaT Center for Human Genetics Tuebingen RCV001591260 SCV004032767 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7

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