ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.473-1G>C

dbSNP: rs1554375661
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673127 SCV000798295 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger) 2018-03-06 criteria provided, single submitter clinical testing

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