ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2919C>T (p.Val973=)

gnomAD frequency: 0.00006  dbSNP: rs764490258
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
Invitae RCV000952090 SCV001098563 likely benign Bethlem myopathy 1 2023-01-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003489979 SCV004237819 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing

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