ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2879C>T (p.Thr960Met)

gnomAD frequency: 0.00008  dbSNP: rs200698641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544804 SCV000656142 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001591293 SCV001815354 uncertain significance not provided 2023-02-08 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 RCV001591293 SCV003833377 uncertain significance not provided 2019-06-21 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV002508939 SCV002818375 not provided Bethlem myopathy no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 08-31-2015 by Lab or GTR ID 26957. 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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