ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.663G>A (p.Gln221=)

gnomAD frequency: 0.00001  dbSNP: rs886043565
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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) RCV000397129 SCV000340748 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001498915 SCV001703669 likely benign Peroxisome biogenesis disorder 2B 2024-10-24 criteria provided, single submitter clinical testing

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