ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del)

dbSNP: rs1557932876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761264 SCV000891222 likely pathogenic Stickler syndrome type 2 2017-05-01 criteria provided, single submitter clinical testing

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