ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.718G>A (p.Ala240Thr) (rs886061412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671710 SCV000796715 uncertain significance Peroxisome biogenesis disorder 4a (zellweger); Peroxisome biogenesis disorder 4B 2017-12-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290746 SCV000463358 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing

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