ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=)

gnomAD frequency: 0.00004  dbSNP: rs371112796
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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 RCV001933633 SCV002199111 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-11-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793615 SCV005407911 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing

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