ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.4614C>T (p.Asp1538=)

gnomAD frequency: 0.00004  dbSNP: rs199759398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000924121 SCV001069626 likely benign Bethlem myopathy 1 2022-09-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726374 SCV001962369 likely benign not provided 2021-09-01 criteria provided, single submitter clinical testing
Department of Neurology, Xijing Hospital, Fourth Military Medical University RCV002298800 SCV002586281 uncertain significance Dystonia 27 2022-10-22 criteria provided, single submitter clinical testing

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