ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6472-15C>G

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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 RCV005070316 SCV005703007 likely benign Bethlem myopathy 1A 2024-07-09 criteria provided, single submitter clinical testing

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