ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.88G>A (p.Val30Met) (rs151220873)

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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 RCV000162102 SCV000196387 likely pathogenic Global developmental delay; Seizures; Microcephaly; Brain atrophy 2014-12-01 no assertion criteria provided research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000362578 SCV000331094 benign not specified 2015-08-25 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675984 SCV000801716 likely benign not provided 2017-12-19 no assertion criteria provided clinical testing

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