ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1240-7A>C

dbSNP: rs1226446593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002213808 SCV002493999 likely benign Zellweger spectrum disorders 2022-02-01 criteria provided, single submitter clinical testing

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