ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3978+1G>A

dbSNP: rs1570712889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986390 SCV001135384 pathogenic Fibrochondrogenesis 1 2019-05-28 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290500 SCV002580876 uncertain significance Stickler syndrome type 2 2022-06-03 criteria provided, single submitter clinical testing

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