ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.2635del (p.Cys879fs)

dbSNP: rs1696644780
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198095 SCV001368896 likely pathogenic 3M syndrome 2 2019-02-25 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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