ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1556C>T (p.Pro519Leu)

gnomAD frequency: 0.00005  dbSNP: rs757227515
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433425 SCV000518637 likely benign not provided 2021-06-03 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000433425 SCV003828820 uncertain significance not provided 2019-10-29 criteria provided, single submitter clinical testing

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