ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.9360T>C (p.Ser3120=)

gnomAD frequency: 0.00004  dbSNP: rs367855839
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245984 SCV000312504 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864562 SCV001005377 likely benign not provided 2024-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000864562 SCV001805592 likely benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003457669 SCV004178072 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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