ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.693C>T (p.Ser231=)

gnomAD frequency: 0.00003  dbSNP: rs140332077
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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) RCV000361889 SCV000345705 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059308 SCV002398109 likely benign Peroxisome biogenesis disorder 2B 2023-10-22 criteria provided, single submitter clinical testing

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