ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7830T>G (p.Leu2610=)

gnomAD frequency: 0.00005  dbSNP: rs145125111
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000864092 SCV001004847 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231417 SCV005879105 likely benign Developmental and epileptic encephalopathy, 18 2024-05-01 criteria provided, single submitter clinical testing

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