ClinVar Miner

Submissions for variant NM_005273.4(GNB2):c.229G>T (p.Gly77Trp)

dbSNP: rs1804373189
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV001312202 SCV001500008 likely pathogenic Global developmental delay 2021-03-09 criteria provided, single submitter clinical testing
OMIM RCV001586121 SCV001821513 pathogenic Neurodevelopmental disorder with hypotonia and dysmorphic facies 2021-08-31 no assertion criteria provided literature only

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