ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) (rs146747080)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000613860 SCV000711486 benign not specified 2016-06-05 criteria provided, single submitter clinical testing p.Leu686Leu in exon 15 of CACNA1D: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.5% (35/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs146747080).
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625436 SCV000745352 likely benign Sinoatrial node dysfunction and deafness 2017-06-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000729981 SCV000857685 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Invitae RCV000729981 SCV001032122 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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