ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser) (rs756815669)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591193 SCV000705541 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000415351 SCV000891535 uncertain significance Niemann-Pick disease type C1 2017-12-30 criteria provided, single submitter curation
Fulgent Genetics,Fulgent Genetics RCV000415351 SCV000896683 uncertain significance Niemann-Pick disease type C1 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415351 SCV000328825 uncertain significance Niemann-Pick disease type C1 2015-05-06 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses inMTPAP (NM_018109.3, c.1468G>T) and NPC1 (NM_000271.3, c.839delT and c.2747A>G - phase unknown) in one individual with reported features of global developmental delay, developmental regression, central hypotonia, short stature, failure to thrive, familial neurodegenerative disease, cerebellar problems on brain MRI, absence like episodes, left hip dislocation, and constipation.

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