ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1254G>T (p.Leu418=)

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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 RCV003109153 SCV003784391 likely benign Peroxisome biogenesis disorder 2B 2023-03-14 criteria provided, single submitter clinical testing

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