ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser)

gnomAD frequency: 0.00002  dbSNP: rs747852608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761053 SCV001999866 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001761053 SCV004377168 benign not provided 2023-07-14 criteria provided, single submitter clinical testing

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