ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6210+13C>T

gnomAD frequency: 0.00723  dbSNP: rs139520272
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001550368 SCV001770683 likely benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002072036 SCV002407310 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-22 criteria provided, single submitter clinical testing

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