ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4290T>C (p.Val1430=)

dbSNP: rs2077626622
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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 RCV002137083 SCV002416183 likely benign Bethlem myopathy 1A 2021-08-31 criteria provided, single submitter clinical testing

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