ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.347G>A (p.Gly116Asp)

dbSNP: rs1646670079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291588 SCV001480130 likely pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252357 SCV002523325 uncertain significance See cases 2019-10-31 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, PP2, PP3

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