ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3246G>A (p.Glu1082=)

gnomAD frequency: 0.00008  dbSNP: rs769342382
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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
CeGaT Center for Human Genetics Tuebingen RCV000996581 SCV001151374 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV000996581 SCV003509090 likely benign not provided 2022-09-14 criteria provided, single submitter clinical testing

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