ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.8004G>A (p.Gln2668=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005145733 SCV005775544 likely benign Bethlem myopathy 1A 2024-05-12 criteria provided, single submitter clinical testing

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