ClinVar Miner

Submissions for variant NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) (rs2070956)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173072 SCV000224156 benign not specified 2014-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000675664 SCV000971130 benign not provided 2018-06-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000306112 SCV000356777 benign Fucosidosis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000173072 SCV000539207 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: Frequency in 1000Genomes: 268/2178=12.3%
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675664 SCV000801366 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing

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