ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.1251C>T (p.Ser417=)

gnomAD frequency: 0.00001  dbSNP: rs995542635
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415029 SCV001617178 likely benign Peroxisome biogenesis disorder 2023-11-24 criteria provided, single submitter clinical testing

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