ClinVar Miner

Submissions for variant NM_015693.4(INTU):c.396del (p.Asn132fs)

dbSNP: rs1553970289
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000599596 SCV000710809 pathogenic Orofaciodigital syndrome 17 2018-03-30 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851201 SCV000993452 likely pathogenic Mohr syndrome 2016-05-09 no assertion criteria provided research

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