ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2465T>C (p.Leu822Pro)

gnomAD frequency: 0.00001  dbSNP: rs1243558040
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890062 SCV002142884 likely benign Bethlem myopathy 1A 2022-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136241 SCV003828603 uncertain significance not provided 2024-01-08 criteria provided, single submitter clinical testing

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