ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2148G>A (p.Glu716=)

gnomAD frequency: 0.00001  dbSNP: rs766104579
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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) RCV000339687 SCV000332297 uncertain significance not provided 2015-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059081 SCV002397008 likely benign Peroxisome biogenesis disorder 2024-02-13 criteria provided, single submitter clinical testing

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