ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.3133A>G (p.Ile1045Val)

dbSNP: rs894700711
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001305904 SCV001495254 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328555 SCV001519701 uncertain significance Epilepsy, familial focal, with variable foci 4 2019-03-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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