ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.147+4A>G

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333367 SCV004040822 likely pathogenic Peroxisome biogenesis disorder 2B 2023-03-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333369 SCV004040849 likely pathogenic Rhizomelic chondrodysplasia punctata type 5 2023-03-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333368 SCV004041133 likely pathogenic Peroxisome biogenesis disorder 2A (Zellweger) 2023-03-01 criteria provided, single submitter clinical testing

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