ClinVar Miner

Submissions for variant NM_001371727.1(GABRB2):c.393C>T (p.His131=)

gnomAD frequency: 0.00003  dbSNP: rs755211861
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503795 SCV001708653 likely benign Intellectual disability 2023-06-15 criteria provided, single submitter clinical testing

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