ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.3963C>T (p.Asn1321=)

gnomAD frequency: 0.00001  dbSNP: rs747602881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518676 SCV000615095 likely benign not specified 2017-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000840957 SCV000982907 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089238 SCV001043666 likely benign Familial hyperkalemic periodic paralysis 2023-10-29 criteria provided, single submitter clinical testing

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