ClinVar Miner

Submissions for variant NM_005184.4(CALM3):c.183C>T (p.Asn61=)

gnomAD frequency: 0.00038  dbSNP: rs3729761
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002229664 SCV000288825 likely benign Long QT syndrome 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001705268 SCV000714240 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26350513)
Ambry Genetics RCV002411049 SCV002710950 likely benign Cardiovascular phenotype 2019-01-28 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705268 SCV004564896 likely benign not provided 2023-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001705268 SCV005209707 likely benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000604992 SCV001919036 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000604992 SCV001927309 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001705268 SCV001954052 likely benign not provided no assertion criteria provided clinical testing

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