ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8554C>T (p.Pro2852Ser)

gnomAD frequency: 0.00009  dbSNP: rs200375837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001036304 SCV001199659 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV003148915 SCV003837160 uncertain significance not provided 2023-01-26 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 has a deleterious effect on protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV003148915 SCV004185369 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing

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