ClinVar Miner

Submissions for variant NM_017613.4(DONSON):c.48del (p.Glu17fs)

dbSNP: rs2145910302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001533010 SCV001745224 likely pathogenic Meier-Gorlin syndrome 1 2021-07-06 criteria provided, single submitter clinical testing found in compound heterozygosity with a variant of unknown significance

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