ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.821C>T (p.Pro274Leu) (rs61753219)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622824 SCV000741077 pathogenic Inborn genetic diseases 2015-10-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000666553 SCV000790861 likely pathogenic Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-04-12 criteria provided, single submitter clinical testing
OMIM RCV000201297 SCV000256084 pathogenic Heimler syndrome 2 2015-10-01 no assertion criteria provided literature only
Undiagnosed Diseases Network,NIH RCV000735222 SCV000863430 likely pathogenic Peroxisome biogenesis disorder 4B 2018-09-06 criteria provided, single submitter clinical testing

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