ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6816C>T (p.Gly2272=)

gnomAD frequency: 0.00001  dbSNP: rs150870098
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576463 SCV001803659 likely benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001576463 SCV003516837 likely benign not provided 2022-08-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458077 SCV004179203 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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