ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.801+11G>C

gnomAD frequency: 0.00113  dbSNP: rs200305129
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248239 SCV000308351 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248239 SCV000714426 likely benign not specified 2017-11-30 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 RCV001518055 SCV001726685 benign not provided 2024-01-30 criteria provided, single submitter clinical testing

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