ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)

dbSNP: rs1057517489
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411702 SCV000487571 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-04-14 criteria provided, single submitter clinical testing
Counsyl RCV000409232 SCV000487572 likely pathogenic Peroxisome biogenesis disorder 1B 2016-04-14 criteria provided, single submitter clinical testing

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