ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1638C>T (p.Arg546=)

gnomAD frequency: 0.00070  dbSNP: rs142408719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591059 SCV000706852 uncertain significance not provided 2018-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079091 SCV001024027 likely benign Peroxisome biogenesis disorder 2B 2024-01-29 criteria provided, single submitter clinical testing

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