ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.954+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004596013 SCV005090974 pathogenic Bethlem myopathy 1B 2024-05-10 criteria provided, single submitter clinical testing PVS1, PS2, PM2 - This variant is expected to lead to a loss of protein function. It is absent from gnomAD. The variant was detected de novo (paternity confirmed).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV004798988 SCV005420652 likely pathogenic Bethlem myopathy 1A 2024-10-04 criteria provided, single submitter research PVS1,PM2

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