ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)

dbSNP: rs2059190701
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001251167 SCV001426642 likely pathogenic Developmental and epileptic encephalopathy, 42 criteria provided, single submitter clinical testing

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