ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4798T>C (p.Tyr1600His)

gnomAD frequency: 0.00004  dbSNP: rs180718181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441031 SCV000534576 uncertain significance not provided 2021-12-21 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; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 391494; Landrum et al., 2016)
Invitae RCV000798902 SCV000938544 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000441031 SCV001502513 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000441031 SCV003832826 uncertain significance not provided 2022-01-15 criteria provided, single submitter clinical testing

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