ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.762A>G (p.Arg254=)

gnomAD frequency: 0.00001  dbSNP: rs777826616
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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) RCV000732144 SCV000860054 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410049 SCV001612090 likely benign Peroxisome biogenesis disorder 2025-01-27 criteria provided, single submitter clinical testing

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