ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu)

dbSNP: rs1555968941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788505 SCV001712160 pathogenic Timothy syndrome 2021-05-13 no assertion criteria provided clinical testing

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