ClinVar Miner

Submissions for variant NM_000271.5(NPC1):c.1947+8_1947+10dup (rs3837910)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481101 SCV000565327 benign not specified 2016-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625010 SCV000743485 benign Niemann-Pick disease type C1 2016-10-19 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625010 SCV000745707 likely benign Niemann-Pick disease type C1 2016-07-14 no assertion criteria provided clinical testing

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