ClinVar Miner

Submissions for variant NM_002618.4(PEX13):c.1014A>G (p.Lys338=)

gnomAD frequency: 0.00001  dbSNP: rs748712609
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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) RCV000595198 SCV000709651 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065185 SCV002467051 likely benign Peroxisome biogenesis disorder 11A (Zellweger) 2022-09-28 criteria provided, single submitter clinical testing

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