ClinVar Miner

Submissions for variant NM_198903.2(GABRG2):c.1327A>G (p.Thr443Ala) (rs757868774)

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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 Inc RCV000992028 SCV001143991 uncertain significance not provided 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV001034052 SCV001197377 likely benign Epilepsy, childhood absence 2; Familial febrile seizures 8 2020-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000992028 SCV001786479 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing

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