ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.8609C>T (p.Pro2870Leu)

gnomAD frequency: 0.00004  dbSNP: rs751638930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894262 SCV002122653 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-02-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146270 SCV003831219 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing

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