ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)

dbSNP: rs1667208458
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital RCV001249607 SCV001423590 likely pathogenic Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1 2018-06-29 criteria provided, single submitter clinical testing [ACMG/AMP: PVS1, PM2] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is absent from or rarely observed in large-scale population databases [PM2].

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