ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3274-9_3274-6del (rs1555165173)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523288 SCV000618660 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing The c.3274-9_3274-6delTCTC variant in the COL2A1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site in intron 46, and may cause abnormal gene splicing. The c.3274-9_3274-6delTCTC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3274-9_3274-6delTCTC as a variant of uncertain significance,
GenomeConnect, ClinGen RCV000709797 SCV000840122 not provided COL2A1-Related Disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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