ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr)

dbSNP: rs1890229008
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219964 SCV001391932 pathogenic Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2021-09-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001266393 SCV001444567 likely pathogenic Inborn genetic diseases 2019-10-14 criteria provided, single submitter clinical testing

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