ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.6244G>A (p.Val2082Ile)

gnomAD frequency: 0.00021  dbSNP: rs752773885
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816208 SCV002063638 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
Invitae RCV001816208 SCV003023506 likely benign not provided 2022-06-10 criteria provided, single submitter clinical testing

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