Total submissions: 3
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 | |
Genome- |
RCV000415044 | SCV001810525 | likely pathogenic | Niemann-Pick disease, type C1 | 2021-07-22 | 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. |