ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4565G>A (p.Arg1522His)

gnomAD frequency: 0.00003  dbSNP: rs751419788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805373 SCV000945327 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001559639 SCV001781912 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing Identified independently and in conjunction with additional variants in individuals referred for connective tissue disorder genetic testing at GeneDx; segregation data is limited or absent at this time; 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
Revvity Omics, Revvity RCV001559639 SCV003833368 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing

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