ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2T>G (p.Met1Arg)

dbSNP: rs1554128597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670830 SCV000795736 likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B 2017-11-16 criteria provided, single submitter clinical testing

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