ClinVar Miner

Submissions for variant NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)

gnomAD frequency: 0.00001  dbSNP: rs768628283
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000708563 SCV000837680 uncertain significance Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 2017-08-14 criteria provided, single submitter clinical testing Our patient inherited a p.L162W variant from his father and a partial gene deletion of MIPEP (exons 7 and 8) from his mother.

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