ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.8817C>T (p.Pro2939=)

gnomAD frequency: 0.00006  dbSNP: rs777808688
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001424653 SCV001627252 likely benign not provided 2024-06-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820119 SCV002066566 likely benign not specified 2017-08-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458046 SCV004178041 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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