ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)

dbSNP: rs794727587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724782 SCV000229812 likely pathogenic not provided 2015-04-24 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV000177862 SCV004022034 likely pathogenic Timothy syndrome 2024-01-08 criteria provided, single submitter research Criteria: PS2_Strong, PS3_Moderate, PM2, PP3
GeneReviews RCV000177862 SCV000240236 not provided Timothy syndrome no assertion provided literature only Severe Timothy syndrome phenotype

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