ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=)

gnomAD frequency: 0.00031  dbSNP: rs373047934
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000472892 SCV000563182 benign not provided 2024-12-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313239 SCV000849091 likely benign Inborn genetic diseases 2016-12-01 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.
CeGaT Center for Human Genetics Tuebingen RCV000472892 SCV001748140 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7
GeneDx RCV000472892 SCV001822482 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457706 SCV004178751 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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