ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.651C>T (p.Asn217=)

gnomAD frequency: 0.00006  dbSNP: rs370425863
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001458280 SCV001662099 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001816004 SCV002062784 likely benign not provided 2021-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368402 SCV002659227 likely benign Cardiovascular phenotype 2019-12-13 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.
Fulgent Genetics, Fulgent Genetics RCV002501607 SCV002807154 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323884 SCV004029310 likely benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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