ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6225G>A (p.Pro2075=)

gnomAD frequency: 0.00008  dbSNP: rs368711215
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 RCV001459553 SCV001663396 likely benign Bethlem myopathy 1 2021-08-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV000908305 SCV003828278 likely benign not provided 2023-11-20 criteria provided, single submitter clinical testing

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