ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) (rs199835797)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000315632 SCV000346517 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354589 SCV000346518 uncertain significance Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266764 SCV000346519 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000896116 SCV001040193 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing

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