ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)

dbSNP: rs758825857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878497 SCV002127246 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478131 SCV002788938 uncertain significance Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 2022-03-09 criteria provided, single submitter clinical testing
GeneDx RCV001878497 SCV004030524 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing Reported in a patient with retinitis pigmentosa in published literature (Comander et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28981474)
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV004584929 SCV005073739 likely pathogenic Hearing loss, autosomal dominant 37 2024-05-02 criteria provided, single submitter research Likely pathogenic by Deafness Variation Database based on PMID:28981474

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