ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)

gnomAD frequency: 0.00024  dbSNP: rs369104842
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690474 SCV000818160 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000690474 SCV000895784 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144506 SCV003833381 uncertain significance not provided 2021-09-23 criteria provided, single submitter clinical testing
GeneDx RCV003144506 SCV003933424 uncertain significance not provided 2023-05-30 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

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