ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=)

gnomAD frequency: 0.00173  dbSNP: rs142822908
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462518 SCV000563178 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000462518 SCV001146053 benign not provided 2018-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000462518 SCV001826454 likely benign not provided 2021-01-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821381 SCV002065663 likely benign not specified 2017-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367619 SCV002663028 likely benign Inborn genetic diseases 2017-11-02 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 RCV000462518 SCV004123689 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7
Genome-Nilou Lab RCV003457704 SCV004180442 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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