ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315161 SCV004014783 uncertain significance Bethlem myopathy 2 2023-03-31 criteria provided, single submitter clinical testing

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