ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1342-27CTTTT[3]

dbSNP: rs543377381
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600792 SCV000714311 likely benign not specified 2018-01-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522125 SCV001731603 benign not provided 2025-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000600792 SCV001808583 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000600792 SCV001917431 benign not specified no assertion criteria provided clinical testing

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