ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1848G>A (p.Gln616=)

gnomAD frequency: 0.00006  dbSNP: rs551068158
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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) RCV000729818 SCV000857509 uncertain significance not provided 2017-10-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001403463 SCV001605334 likely benign Peroxisome biogenesis disorder 2B 2024-01-19 criteria provided, single submitter clinical testing

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