ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2951G>A (p.Gly984Glu)

gnomAD frequency: 0.00007  dbSNP: rs376514006
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001234765 SCV001407424 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-11-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726461 SCV001961980 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001726461 SCV003833346 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing

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