ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4719C>T (p.Ile1573=)

gnomAD frequency: 0.00006  dbSNP: rs562551941
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000654676 SCV000776575 likely benign Hyperkalemic periodic paralysis 2023-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003411555 SCV004138786 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing SCN4A: BP4, BP7

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