ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=)

gnomAD frequency: 0.00112  dbSNP: rs2275098
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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 RCV000231555 SCV000290140 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317768 SCV000850162 benign Inborn genetic diseases 2017-02-11 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 RCV000231555 SCV001850760 benign not provided 2019-09-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820752 SCV002065674 benign not specified 2017-07-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457659 SCV004177995 benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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