ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2879C>G (p.Ala960Gly)

dbSNP: rs543253703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210462 SCV001381951 benign Bethlem myopathy 1 2024-01-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003490123 SCV004235466 uncertain significance not provided 2023-11-16 criteria provided, single submitter clinical testing

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