ClinVar Miner

Submissions for variant NM_057174.2(PEX16):c.873T>C (p.Tyr291=) (rs1132349)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676058 SCV000985674 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 RCV000389065 SCV000372058 benign Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676058 SCV000801792 benign not provided 2015-10-21 no assertion criteria provided clinical testing
PreventionGenetics RCV000248969 SCV000310661 benign not specified criteria provided, single submitter clinical testing

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