ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4302C>T (p.Arg1434=)

gnomAD frequency: 0.00988  dbSNP: rs114697352
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422534 SCV000534096 benign not specified 2017-01-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001080257 SCV000651027 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711686 SCV000842073 benign not provided 2018-08-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328991 SCV002630892 benign Cardiovascular phenotype 2018-12-26 criteria provided, single submitter clinical testing This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422534 SCV003929249 benign not specified 2023-04-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486842 SCV004240649 benign Cardiomyopathy 2023-05-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000422534 SCV001921560 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000422534 SCV001967983 benign not specified no assertion criteria provided clinical testing

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