ClinVar Miner

Submissions for variant NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) (rs12484657)

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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 RCV000081925 SCV000113860 benign not specified 2013-11-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000081925 SCV000313047 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001083527 SCV001101920 benign Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000990373 SCV001141329 benign Peroxisome biogenesis disorder 1A (Zellweger) 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001140190 SCV001300416 likely benign Peroxisome biogenesis disorder 7A 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.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676115 SCV000801859 benign not provided 2015-10-21 no assertion criteria provided clinical testing

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