ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)

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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 RCV003482859 SCV004230017 uncertain significance not provided 2023-01-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV003615961 SCV004481217 likely benign Familial hyperkalemic periodic paralysis 2023-01-10 criteria provided, single submitter clinical testing

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