ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs)

dbSNP: rs1569145145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV000680173 SCV000804843 likely pathogenic Orofaciodigital syndrome I 2018-07-12 no assertion criteria provided clinical testing

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