ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)

gnomAD frequency: 0.00004  dbSNP: rs189230866
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000713123 SCV000335059 uncertain significance not provided 2015-09-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713123 SCV000843694 benign not provided 2018-03-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088129 SCV001019542 likely benign Hyperkalemic periodic paralysis 2024-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713123 SCV001334662 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing

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