ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002720665 SCV003001345 benign not provided 2024-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034382 SCV005666238 uncertain significance Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2024-05-03 criteria provided, single submitter clinical testing

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