ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.130-1G>C

dbSNP: rs1028247729
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411284 SCV000487522 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2016-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000412347 SCV000487523 likely pathogenic Peroxisome biogenesis disorder 1B 2016-02-22 criteria provided, single submitter clinical testing

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