ClinVar Miner

Submissions for variant NM_001851.6(COL9A1):c.1066-36C>A

gnomAD frequency: 0.04608  dbSNP: rs77357454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250924 SCV000308323 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000838324 SCV000980190 benign not provided 2018-06-14 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.

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