ClinVar Miner

Submissions for variant NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser)

dbSNP: rs2113389282
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182279 SCV002339982 benign Intellectual disability 2024-10-16 criteria provided, single submitter clinical testing

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