ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4950G>A (p.Pro1650=)

gnomAD frequency: 0.00001  dbSNP: rs375995481
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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 Inc RCV000713120 SCV000843691 benign not provided 2018-04-26 criteria provided, single submitter clinical testing
Invitae RCV002060891 SCV002345771 likely benign Familial hyperkalemic periodic paralysis 2023-03-31 criteria provided, single submitter clinical testing

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