ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.3488del (p.Gly1163fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476766 SCV004203372 likely pathogenic Heimler syndrome 1 2023-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047601 SCV005674317 likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2024-06-16 criteria provided, single submitter clinical testing

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