ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6117G>C (p.Gln2039His)

gnomAD frequency: 0.00002  dbSNP: rs750063736
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 RCV000540239 SCV000657364 likely benign Bethlem myopathy 1A 2023-11-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144375 SCV003834646 uncertain significance not provided 2023-01-13 criteria provided, single submitter clinical testing

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