ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2631C>T (p.Thr877=)

gnomAD frequency: 0.00717  dbSNP: rs140831372
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713740 SCV000290131 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000229211 SCV000312490 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713740 SCV000844369 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311356 SCV000846694 likely benign Inborn genetic diseases 2016-02-24 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.
GeneDx RCV000713740 SCV001857569 benign not provided 2019-08-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713740 SCV002544271 benign not provided 2024-02-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002503915 SCV002812037 likely benign Developmental and epileptic encephalopathy, 18 2021-10-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002503915 SCV004180645 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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