ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3441T>C (p.Asp1147=)

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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 RCV003632702 SCV004534003 likely benign Bethlem myopathy 1A 2023-04-19 criteria provided, single submitter clinical testing

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