ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.3246-2A>G (rs886042268)

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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 RCV000413103 SCV000332997 pathogenic not provided 2015-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000413103 SCV000490669 pathogenic not provided 2015-11-10 criteria provided, single submitter clinical testing The c.3246-2 A>G splice site variant in the NPC1 gene has been previously reported in association with Niemann-Pick disease, type C (NPC) (Kluenemann et al., 2013). This pathogenic variant destroys the canonical splice acceptor site in intron 21, and is expected to cause abnormal gene splicing. We interpret c.3246-2 A>G to be a pathogenic variant.
Genetic Services Laboratory,University of Chicago RCV000295010 SCV000596043 pathogenic Niemann-Pick disease type C1 2016-11-18 criteria provided, single submitter clinical testing
Counsyl RCV000295010 SCV001132259 likely pathogenic Niemann-Pick disease type C1 2015-04-22 no assertion criteria provided clinical testing

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