ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.429C>T (p.Ile143=)

gnomAD frequency: 0.00003  dbSNP: rs1209373381
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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 RCV001422040 SCV001624578 likely benign not provided 2024-10-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001422040 SCV004123660 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7
Genome-Nilou Lab RCV003458174 SCV004179376 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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