ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.6936G>A (p.Ala2312=)

gnomAD frequency: 0.00004  dbSNP: rs192791002
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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 RCV000866232 SCV001007300 likely benign not provided 2023-12-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000866232 SCV004123687 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing SZT2: BP4, BP7
Genome-Nilou Lab RCV003457868 SCV004179236 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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