ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.2497+8T>C

dbSNP: rs2106366476
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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 RCV002204757 SCV002360260 likely benign Bethlem myopathy 1A 2021-09-30 criteria provided, single submitter clinical testing

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