ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.1331_1343dup (p.Asp449fs)

dbSNP: rs2066649828
Minimum review status: Collection method:
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ClinVar version:
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 RCV001092348 SCV001248805 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing

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