ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4493C>G (p.Pro1498Arg)

dbSNP: rs2144748419
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274323 SCV002558942 likely pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing

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