ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7086+44C>G

gnomAD frequency: 0.64589  dbSNP: rs499018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001582441 SCV001821738 benign Ullrich congenital muscular dystrophy 2 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001582442 SCV001821739 benign Bethlem myopathy 2 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001615344 SCV001839049 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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