ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.551+8C>T

dbSNP: rs775578165
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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) RCV000734925 SCV000863105 uncertain significance not provided 2018-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535401 SCV003202882 likely benign Peroxisome biogenesis disorder 2B 2022-05-12 criteria provided, single submitter clinical testing

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