ClinVar Miner

Submissions for variant NM_138701.4(MPLKIP):c.505dup (p.Thr169fs) (rs768342562)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Metabolic laboratory,Sheba Medical Center Tel-Hashomer RCV000202381 SCV000256860 pathogenic Trichothiodystrophy 1, photosensitive no assertion criteria provided research we report a multiplex kindred of Arab-Muslim descent with a total of 16 individuals exhibiting features of TTD, including variable degrees of mental retardation, brittle hair and male infertility. Molecular diagnosis in this highly affected family enable genetic counseling and prenatal diagnosis for future pregnancies.

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