ClinVar Miner

Submissions for variant NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) (rs756789619)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Manipal Health Enterprises Pvt Ltd, Manipal Hospital RCV000416989 SCV000281757 likely pathogenic Joubert syndrome and related disorders 2016-05-16 no assertion criteria provided clinical testing Mutations in INPP5E cause Joubert syndrome: a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies. Features include the classic molar tooth sign on MRI, delayed psychomotor development, mental retardation, ataxia, hypotonia,ptosis,strabismus.

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