ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.4003G>C (p.Val1335Leu)

dbSNP: rs2098269145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090904 SCV001246672 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing

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