ClinVar Miner

Submissions for variant NM_001853.4(COL9A3):c.887C>T (p.Pro296Leu)

gnomAD frequency: 0.04093  dbSNP: rs45628843
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253400 SCV000308438 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253400 SCV000728835 benign not specified 2017-09-14 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.
Athena Diagnostics Inc RCV000710926 SCV000841236 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
Invitae RCV000710926 SCV001730817 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278169 SCV002566453 benign Connective tissue disorder 2022-06-03 criteria provided, single submitter clinical testing

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