ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=)

gnomAD frequency: 0.00004  dbSNP: rs149672814
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866178 SCV001007240 benign not provided 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000866178 SCV001770398 likely benign not provided 2021-06-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000866178 SCV002496872 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7
Ambry Genetics RCV002416015 SCV002680299 likely benign Inborn genetic diseases 2019-02-25 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.
Genome-Nilou Lab RCV003457867 SCV004178014 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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