ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3295G>A (p.Ala1099Thr)

gnomAD frequency: 0.00431  dbSNP: rs58240016
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882903 SCV001026167 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000882903 SCV001982948 likely benign not provided 2021-04-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882903 SCV004184693 benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1G: BS1, BS2

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