ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)

gnomAD frequency: 0.00006  dbSNP: rs369193482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703971 SCV000832902 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000703971 SCV000897313 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002305531 SCV002599951 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign in association with COL12A1-related myopathies to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28407358, 34011629, 31785789, 25363768)
Revvity Omics, Revvity RCV002305531 SCV003833357 uncertain significance not provided 2024-01-19 criteria provided, single submitter clinical testing

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