ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)

gnomAD frequency: 0.00004  dbSNP: rs201973949
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559299 SCV000656169 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000559299 SCV000895791 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001797105 SCV002038918 uncertain significance not provided 2021-11-24 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# 475876; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)
Revvity Omics, Revvity RCV001797105 SCV003831172 uncertain significance not provided 2019-05-03 criteria provided, single submitter clinical testing

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