ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.96G>A (p.Ala32=)

gnomAD frequency: 0.00016  dbSNP: rs368239688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551745 SCV000651193 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377143 SCV002692583 likely benign Cardiovascular phenotype 2019-10-08 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.
Clinical Genetics, Academic Medical Center RCV001701078 SCV001922438 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702515 SCV001930549 likely benign not provided no assertion criteria provided clinical testing

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