ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.2182C>T (p.Pro728Ser)

gnomAD frequency: 0.00001  dbSNP: rs577794661
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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) RCV000730903 SCV000858670 uncertain significance not provided 2017-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868959 SCV002173278 likely benign Peroxisome biogenesis disorder 2024-07-16 criteria provided, single submitter clinical testing

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