ClinVar Miner

Submissions for variant NM_020708.5(SLC12A5):c.93C>T (p.Ser31=)

gnomAD frequency: 0.00063  dbSNP: rs145033801
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 RCV000954011 SCV001100613 likely benign Developmental and epileptic encephalopathy, 34 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704370 SCV005208807 likely benign not provided criteria provided, single submitter not provided

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