ClinVar Miner

Submissions for variant NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) (rs147530802)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078560 SCV000110416 benign not specified 2014-05-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000078560 SCV000540016 likely 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: Benign by Emory 2014. Has been reported in 2 homozygous individuals of iranian origin, who presented with peroxisomal biogenesis disorder with mild clinical phenotype. Consanguinity in at least one of the families. (Zeharia 2007). Given the high frequency in ExAC, LB
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514867 SCV000610365 benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Invitae RCV001082581 SCV001099586 benign Peroxisome biogenesis disorder 3A 2020-12-08 criteria provided, single submitter clinical testing
Mendelics RCV000989844 SCV001140435 benign Infantile Refsum disease 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082581 SCV001284750 likely benign Peroxisome biogenesis disorder 3A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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