ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.249C>T (p.Asn83=)

gnomAD frequency: 0.00004  dbSNP: rs151032529
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 RCV000910849 SCV001055897 likely benign Bethlem myopathy 1A 2024-11-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704310 SCV005207662 likely benign not provided criteria provided, single submitter not provided

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