ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.18A>G (p.Pro6=)

gnomAD frequency: 0.00020  dbSNP: rs769300208
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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) RCV000730443 SCV000858179 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001482425 SCV001686794 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-11 criteria provided, single submitter clinical testing

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