ClinVar Miner

Submissions for variant NM_001128840.3(CACNA1D):c.5814G>T (p.Pro1938=)

dbSNP: rs776968811
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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, Mass General Brigham Personalized Medicine RCV000213518 SCV000270014 likely benign not specified 2015-06-04 criteria provided, single submitter clinical testing p.Pro1958Pro in exon 47 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002057100 SCV002468179 likely benign not provided 2023-07-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002057100 SCV003830336 uncertain significance not provided 2019-07-20 criteria provided, single submitter clinical testing

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