ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.966C>T (p.Ile322=)

gnomAD frequency: 0.00005  dbSNP: rs369160080
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 RCV002082744 SCV002325344 likely benign Bethlem myopathy 1A 2023-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711740 SCV005261846 likely benign not provided criteria provided, single submitter not provided

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