ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.839del (p.Leu280fs) (rs1057518711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000415044 SCV000797211 likely pathogenic Niemann-Pick disease type C1 2018-01-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415044 SCV000328824 pathogenic 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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