ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3929C>T (p.Thr1310Ile)

dbSNP: rs949144433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329834 SCV001521377 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2020-07-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV005014437 SCV005645432 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-03-27 criteria provided, single submitter clinical testing

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