ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys)

gnomAD frequency: 0.00047  dbSNP: rs147044263
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814443 SCV000954853 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-19 criteria provided, single submitter clinical testing
GeneDx RCV001566822 SCV001790400 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Revvity Omics, Revvity RCV001566822 SCV003833307 uncertain significance not provided 2023-02-16 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000814443 SCV004228664 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 05-10-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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