ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter)

dbSNP: rs748966916
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200646 SCV001371656 likely pathogenic not provided 2020-06-01 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290634 SCV002581440 likely pathogenic Bethlem myopathy 1 2021-07-27 criteria provided, single submitter clinical testing

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