ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.367C>T (p.Leu123=)

gnomAD frequency: 0.00002  dbSNP: rs758218388
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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) RCV000593767 SCV000709653 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001489756 SCV001694308 likely benign Peroxisome biogenesis disorder 2024-12-03 criteria provided, single submitter clinical testing

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