ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5374G>A (p.Ala1792Thr)

gnomAD frequency: 0.00028  dbSNP: rs201348102
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244089 SCV000307961 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697720 SCV000724794 likely benign not provided 2020-06-12 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000649060 SCV000770885 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002347956 SCV002647145 likely benign Cardiovascular phenotype 2019-06-21 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 RCV003150144 SCV003838427 likely benign Cardiomyopathy 2021-11-01 criteria provided, single submitter clinical testing

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