ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=)

gnomAD frequency: 0.03117  dbSNP: rs12129487
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249638 SCV000312493 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001080541 SCV000563175 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311390 SCV000846918 benign Inborn genetic diseases 2016-03-21 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV001080541 SCV001948681 benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457664 SCV004181108 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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