ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)

dbSNP: rs1603590637
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990364 SCV001141315 pathogenic Bethlem myopathy 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531974 SCV001747328 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing

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