ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.969G>A (p.Thr323=)

gnomAD frequency: 0.00002  dbSNP: rs1429424012
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604112 SCV000723331 likely benign not specified 2017-09-27 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.
Athena Diagnostics Inc RCV000992909 SCV001145498 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Invitae RCV001446569 SCV001649618 likely benign Hyperkalemic periodic paralysis 2023-12-17 criteria provided, single submitter clinical testing

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