ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=)

gnomAD frequency: 0.00511  dbSNP: rs140788949
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000713744 SCV000563184 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713744 SCV000844373 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313240 SCV000849345 benign Inborn genetic diseases 2016-08-08 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 RCV000713744 SCV001916786 benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457708 SCV004177472 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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