ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.126C>G (p.Pro42=)

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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 RCV004576025 SCV005050521 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing CACNA1A: PM2:Supporting, BP4, BP7

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