ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1041G>A (p.Gln347=)

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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 RCV005151244 SCV005776672 likely benign Peroxisome biogenesis disorder 2B 2024-02-12 criteria provided, single submitter clinical testing

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