ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3922C>T (p.Arg1308Trp)

dbSNP: rs140330124
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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 RCV000811049 SCV000951295 benign Bethlem myopathy 1A 2024-09-13 criteria provided, single submitter clinical testing

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