ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.226A>G (p.Ser76Gly)

gnomAD frequency: 0.00039  dbSNP: rs148296743
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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) RCV000732631 SCV000860606 uncertain significance not provided 2018-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080682 SCV001107552 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-29 criteria provided, single submitter clinical testing

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