ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4072G>A (p.Glu1358Lys)

gnomAD frequency: 0.00001  dbSNP: rs762544728
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 RCV001301015 SCV001490172 likely benign Bethlem myopathy 1A 2024-04-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145529 SCV003832984 uncertain significance not provided 2020-03-27 criteria provided, single submitter clinical testing

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