ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.196G>A (p.Asp66Asn)

gnomAD frequency: 0.00002  dbSNP: rs976006680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325892 SCV001516901 likely benign not provided 2024-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001325892 SCV001826803 uncertain significance not provided 2020-10-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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