ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.384C>T (p.Phe128=)

gnomAD frequency: 0.00003  dbSNP: rs1219475284
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316145 SCV000847747 likely benign Inborn genetic diseases 2016-09-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV001171969 SCV001334891 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV003768127 SCV004604864 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-08-23 criteria provided, single submitter clinical testing

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