ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)

gnomAD frequency: 0.00021  dbSNP: rs191233787
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536812 SCV000656173 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000536812 SCV000895789 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-08-16 criteria provided, single submitter clinical testing
GeneDx RCV001551411 SCV001771917 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 475878; Landrum et al., 2016)
Revvity Omics, Revvity RCV001551411 SCV003831224 likely benign not provided 2023-03-03 criteria provided, single submitter clinical testing
New York Genome Center RCV000536812 SCV004176112 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-06-16 criteria provided, single submitter clinical testing

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