ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6730G>A (p.Glu2244Lys)

gnomAD frequency: 0.00002  dbSNP: rs753307921
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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 RCV001913221 SCV002176007 likely benign Bethlem myopathy 1A 2022-08-31 criteria provided, single submitter clinical testing

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