ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.24C>A (p.Pro8=)

gnomAD frequency: 0.00009  dbSNP: rs774943691
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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) RCV000594390 SCV000709619 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001406941 SCV001608905 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2024-01-15 criteria provided, single submitter clinical testing

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