ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5507C>T (p.Thr1836Met)

gnomAD frequency: 0.00008  dbSNP: rs200108494
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038960 SCV001202463 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-24 criteria provided, single submitter clinical testing
GeneDx RCV001546611 SCV001766155 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001546611 SCV003832859 uncertain significance not provided 2020-08-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001546611 SCV005041547 uncertain significance not provided 2024-04-01 criteria provided, single submitter clinical testing COL12A1: PM2:Supporting
GenomeConnect - Invitae Patient Insights Network RCV001038960 SCV004228743 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 09-08-2020 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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