ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.5501G>A (p.Arg1834Gln)

gnomAD frequency: 0.00018  dbSNP: rs182768408
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652905 SCV000774777 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001555180 SCV001776551 likely benign not provided 2021-04-02 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000652905 SCV001749410 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 07-08-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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