ClinVar Miner

Submissions for variant NM_001698.3(AUH):c.150G>A (p.Trp50Ter)

dbSNP: rs1587943560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999175 SCV001155663 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000999175 SCV002525798 likely pathogenic not provided 2022-01-24 criteria provided, single submitter clinical testing PM2, PVS1

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