ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.546C>T (p.Phe182=)

gnomAD frequency: 0.00004  dbSNP: rs781292135
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001493848 SCV001698489 likely benign not provided 2023-11-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490258 SCV004237882 likely benign Developmental and epileptic encephalopathy, 18 2023-10-30 criteria provided, single submitter clinical testing

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