ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1507G>C (p.Val503Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003993332 SCV004810601 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing CACNA1A: PM2, PP2, PP3

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