ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6998C>A (p.Thr2333Lys)

gnomAD frequency: 0.00002  dbSNP: rs557578629
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233465 SCV001406062 likely benign Bethlem myopathy 1 2023-11-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145445 SCV003834613 uncertain significance not provided 2020-11-23 criteria provided, single submitter clinical testing

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