ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.81C>T (p.Asp27=)

gnomAD frequency: 0.00001  dbSNP: rs398123572
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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) RCV000079506 SCV000111388 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055121 SCV002392874 likely benign Peroxisome biogenesis disorder 2B 2022-08-21 criteria provided, single submitter clinical testing

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