ClinVar Miner

Submissions for variant NM_000069.3(CACNA1S):c.4316G>T (p.Cys1439Phe)

dbSNP: rs2102555595
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806442 SCV002054036 uncertain significance Hypokalemic periodic paralysis, type 1 criteria provided, single submitter clinical testing

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