ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3817-13del

dbSNP: rs34228277
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331275 SCV000346420 benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000385822 SCV000346421 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282107 SCV000346422 benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001515344 SCV000728845 benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515344 SCV001723398 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000615992 SCV001807723 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000615992 SCV001923728 benign not specified no assertion criteria provided clinical testing

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