ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Department, Xiangya Hospital, Central South University RCV003233021 SCV003930352 likely pathogenic Developmental and epileptic encephalopathy, 42 2021-01-07 criteria provided, single submitter clinical testing

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