ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.348C>T (p.Leu116=)

gnomAD frequency: 0.00001  dbSNP: rs746578841
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591401 SCV000702495 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001446792 SCV001649844 likely benign Peroxisome biogenesis disorder 2024-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000591401 SCV004161633 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PEX6: BP4, BP7

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