ClinVar Miner

Submissions for variant NM_000310.3(PPT1):c.363-4G>A (rs117284255)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118046 SCV000152373 likely benign not specified 2013-08-27 criteria provided, single submitter clinical testing
GeneDx RCV000118046 SCV000171171 benign not specified 2013-03-22 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118046 SCV000230065 benign not specified 2014-11-05 criteria provided, single submitter clinical testing
Invitae RCV000675772 SCV000284563 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312450 SCV000357398 likely benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000118046 SCV000540105 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ExAC frequency
Broad Institute Rare Disease Group,Broad Institute RCV000118046 SCV000574526 benign not specified 2016-11-20 criteria provided, single submitter reference population ACMG Criteria: BA1.Two heterogous patients with neuronal ceroid lipofuscinosis phenotype were reported (but no second variant identified in these cases) (PMID: 21990111) for this rare, severe, pediatric-onset, autosomal recessive disorder. In ExAC, allele frequency >5% for Latinos, with 27 homozygotes.
Ambry Genetics RCV000716235 SCV000847073 benign History of neurodevelopmental disorder 2016-03-24 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000225917 SCV000734027 benign Ceroid lipofuscinosis neuronal 1 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675772 SCV000801493 likely benign not provided 2017-10-26 no assertion criteria provided clinical testing

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