ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1800C>T (p.Tyr600=)

gnomAD frequency: 0.00002  dbSNP: rs778746718
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516267 SCV000615064 benign not specified 2016-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060258 SCV002398254 likely benign Familial hyperkalemic periodic paralysis 2023-12-09 criteria provided, single submitter clinical testing

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