ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1044T>C (p.Val348=)

gnomAD frequency: 0.00106  dbSNP: rs151304822
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000276638 SCV000345620 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000884834 SCV001028236 benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-31 criteria provided, single submitter clinical testing

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