ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.837A>G (p.Ser279=)

dbSNP: rs2136159396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002211211 SCV002497200 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing PEX5: BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003101229 SCV003281853 likely benign Peroxisome biogenesis disorder 2B 2023-07-13 criteria provided, single submitter clinical testing

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