ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.339+10A>G (rs374668045)

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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 RCV000726667 SCV000345914 uncertain significance not provided 2016-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000367539 SCV000722272 likely benign not specified 2017-08-21 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.
Athena Diagnostics Inc RCV000726667 SCV001144911 benign not provided 2018-11-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000367539 SCV001159935 likely benign not specified 2019-02-15 criteria provided, single submitter clinical testing
Invitae RCV001521874 SCV001731293 benign Peroxisome biogenesis disorder 9B 2020-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274737 SCV001459137 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2020-01-17 no assertion criteria provided clinical testing

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