ClinVar Miner

Submissions for variant NM_000466.3(PEX1):c.665C>T (p.Thr222Ile)

gnomAD frequency: 0.00002  dbSNP: rs773922257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178773 SCV000230927 uncertain significance not provided 2014-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764731 SCV000895866 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger); Heimler syndrome 1; Peroxisome biogenesis disorder 1B 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002516781 SCV003453176 likely benign Zellweger spectrum disorders 2023-11-24 criteria provided, single submitter clinical testing

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