ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.358-2A>G

dbSNP: rs1057517500
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409764 SCV000487615 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-05-24 criteria provided, single submitter clinical testing
Counsyl RCV000410357 SCV000487616 likely pathogenic Peroxisome biogenesis disorder 1B 2016-05-24 criteria provided, single submitter clinical testing

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