ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)

dbSNP: rs763199410
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001535915 SCV001752560 likely pathogenic Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2021-06-30 criteria provided, single submitter clinical testing

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