ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys)

dbSNP: rs1314887157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542396 SCV000658592 uncertain significance Hyperkalemic periodic paralysis 2021-08-27 criteria provided, single submitter clinical testing

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