ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1014C>T (p.Asp338=)

gnomAD frequency: 0.00039  dbSNP: rs140806942
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593253 SCV000707116 uncertain significance not provided 2018-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088282 SCV001060149 likely benign Peroxisome biogenesis disorder 2024-12-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000593253 SCV003814865 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing

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