ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) (rs375811590)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000616986 SCV000711492 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing p.Asp2159Asp in exon 49 of CACNA1D: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.2% (20/10152 ) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs375811590).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727931 SCV000855444 uncertain significance not provided 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV000727931 SCV001081004 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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