ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)

gnomAD frequency: 0.00009  dbSNP: rs141616435
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558576 SCV000650913 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404520 SCV002709203 likely benign Cardiovascular phenotype 2022-04-04 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 RCV002497173 SCV002808618 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-04-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144347 SCV003833200 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing

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