ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys)

dbSNP: rs553025178
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520193 SCV000619102 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV000520193 SCV002367811 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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