ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)

gnomAD frequency: 0.57002  dbSNP: rs1051375
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079298 SCV000111168 benign not specified 2014-05-13 criteria provided, single submitter clinical testing
GeneDx RCV000079298 SCV000167505 benign not specified 2011-07-10 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.
PreventionGenetics, part of Exact Sciences RCV000079298 SCV000305454 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251547 SCV000317643 benign Cardiovascular phenotype 2015-09-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000860304 SCV001000316 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554654 SCV001775926 benign Timothy syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706482 SCV005234729 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000079298 SCV001978497 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000079298 SCV001979195 benign not specified no assertion criteria provided clinical testing

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