ClinVar Miner

Submissions for variant NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) (rs730882234)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000162156 SCV000196442 likely pathogenic Cerebellar ataxia; Global developmental delay; Hearing impairment 2014-12-01 no assertion criteria provided research
Hereditary Research Laboratory,Bethlehem University RCV000162247 SCV000538114 pathogenic Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2016-06-04 no assertion criteria provided research bilat severe w/mild MR and motor delay
OMIM RCV000162247 SCV000212240 pathogenic Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2015-01-13 no assertion criteria provided literature only

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