ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7512-3C>T

gnomAD frequency: 0.00086  dbSNP: rs117106532
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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 RCV000477606 SCV000563171 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311801 SCV000847195 benign Inborn genetic diseases 2018-06-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000477606 SCV001753227 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446076 SCV004174060 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915322 SCV004729473 benign SZT2-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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