ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.54G>A (p.Pro18=)

gnomAD frequency: 0.00003  dbSNP: rs1002699754
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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) RCV000731302 SCV000859103 uncertain significance not provided 2018-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855655 SCV002119508 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2022-09-22 criteria provided, single submitter clinical testing

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