ClinVar Miner

Submissions for variant NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196068 SCV001366497 pathogenic Marshall syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PM4,PP3.
Invitae RCV001381547 SCV001579987 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing

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