ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5376G>A (p.Pro1792=)

gnomAD frequency: 0.00001  dbSNP: rs765644422
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874528 SCV001016717 likely benign Familial hyperkalemic periodic paralysis 2023-12-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705845 SCV005211219 likely benign not provided criteria provided, single submitter not provided

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