ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.4084C>T (p.Leu1362=)

gnomAD frequency: 0.00149  dbSNP: rs374849749
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Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884756 SCV001028156 benign not provided 2024-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000884756 SCV001988874 benign not provided 2021-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884756 SCV004033574 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BS1

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