ClinVar Miner

Submissions for variant NM_003846.3(PEX11B):c.277C>T (p.Arg93Ter)

gnomAD frequency: 0.00004  dbSNP: rs781939614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000525555 SCV000622170 pathogenic Peroxisome biogenesis disorder 14B 2016-06-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729272 SCV000856919 likely pathogenic not provided 2017-09-18 criteria provided, single submitter clinical testing
OMIM RCV000525555 SCV001443116 pathogenic Peroxisome biogenesis disorder 14B 2020-11-11 no assertion criteria provided literature only

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