ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.2875C>T (p.Leu959=)

gnomAD frequency: 0.00003  dbSNP: rs1570647334
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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 RCV000876611 SCV001019204 likely benign not provided 2024-06-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507537 SCV002806361 likely benign Developmental and epileptic encephalopathy, 18 2021-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002507537 SCV004180789 likely benign Developmental and epileptic encephalopathy, 18 2023-04-11 criteria provided, single submitter clinical testing

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