ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)

gnomAD frequency: 0.00001  dbSNP: rs745852751
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001917633 SCV002177461 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2022-12-02 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001917633 SCV002496062 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-07-08 criteria provided, single submitter clinical testing COL12A1 NM_004370.5 exon 44 p.Val2342Ile (c.7024G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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