ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala) (rs182308788)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000358540	SCV000463348	uncertain significance	Peroxisome biogenesis disorder 1A (Zellweger)	2016-06-14	criteria provided, single submitter	clinical testing

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