ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.843C>A (p.Ile281=)

dbSNP: rs749127891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314486 SCV000848148 likely benign Inborn genetic diseases 2016-10-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001413357 SCV001615469 likely benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2025-01-13 criteria provided, single submitter clinical testing

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