ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.603C>T (p.Thr201=)

gnomAD frequency: 0.01810  dbSNP: rs75965657
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252702 SCV000305547 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252702 SCV000522689 benign not specified 2016-01-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000465372 SCV000560915 benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716422 SCV000847262 benign Seizure 2016-07-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Breakthrough Genomics, Breakthrough Genomics RCV004714572 SCV005297417 benign not provided criteria provided, single submitter not provided

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