ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn)

dbSNP: rs1600292598
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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 RCV000996794 SCV001151720 likely pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing

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