ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)

gnomAD frequency: 0.00002  dbSNP: rs375876694
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Raymond Lab,University of Cambridge RCV000850205 SCV000897743 likely pathogenic Intellectual disability 2019-02-13 criteria provided, single submitter research
Invitae RCV001869051 SCV002203097 uncertain significance not provided 2021-10-14 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003576 SCV001161953 pathogenic Microcephaly; Sparse hair; Movement disorder no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003577 SCV001161954 pathogenic Microcephaly; Sparse hair; Intellectual disability, severe; Movement disorder no assertion criteria provided research

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