ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)

gnomAD frequency: 0.00045  dbSNP: rs200520924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000652923 SCV000774795 benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000652923 SCV000897311 uncertain significance Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2021-12-09 criteria provided, single submitter clinical testing
GeneDx RCV002282293 SCV002571211 uncertain significance not provided 2024-06-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this missense variant does not alter protein structure/function
GenomeConnect - Invitae Patient Insights Network RCV000652923 SCV004228711 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-23-2020 by Lab 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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