ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1395+14T>A

gnomAD frequency: 0.00323  dbSNP: rs367801990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606765 SCV000714312 likely benign not specified 2017-12-29 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 RCV001518056 SCV001726686 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001518056 SCV001808553 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000606765 SCV001917895 benign not specified no assertion criteria provided clinical testing

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