ClinVar Miner

Submissions for variant NM_000287.4(PEX6):c.855C>A (p.Pro285=)

dbSNP: rs757897959
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732962 SCV000860964 uncertain significance not provided 2018-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474745 SCV001678921 likely benign Peroxisome biogenesis disorder 2025-01-15 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731914 SCV001984600 likely benign not specified 2020-07-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835944 SCV002077329 likely benign Zellweger spectrum disorders 2021-08-24 no assertion criteria provided clinical testing

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