ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)

gnomAD frequency: 0.00131  dbSNP: rs201636548
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178623 SCV000230738 uncertain significance not provided 2015-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082971 SCV000651178 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000178623 SCV000981456 benign not provided 2020-11-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408773 SCV002669405 likely benign Cardiovascular phenotype 2019-02-01 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150053 SCV003838454 benign Cardiomyopathy 2021-09-14 criteria provided, single submitter clinical testing

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