ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.1483+8C>T

gnomAD frequency: 0.00001  dbSNP: rs911755069
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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 RCV002189604 SCV002342284 likely benign Zellweger spectrum disorders 2023-01-17 criteria provided, single submitter clinical testing

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