ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4296G>A (p.Pro1432=)

gnomAD frequency: 0.00014  dbSNP: rs370827536
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000416169 SCV000493469 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing FLNC: BP4, BP7
Invitae RCV001088732 SCV000651025 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000416169 SCV001790569 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328904 SCV002631067 likely benign Cardiovascular phenotype 2019-10-20 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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