ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6068A>G (p.Asn2023Ser)

gnomAD frequency: 0.00002  dbSNP: rs115320113
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 RCV000796234 SCV000935739 likely benign Bethlem myopathy 1A 2024-12-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003489875 SCV004235475 uncertain significance not provided 2023-08-11 criteria provided, single submitter clinical testing

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