ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.1548C>T (p.Ser516=)

gnomAD frequency: 0.00014  dbSNP: rs143571888
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594556 SCV000707560 uncertain significance not provided 2018-07-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079795 SCV001051830 likely benign Peroxisome biogenesis disorder 2B 2024-01-30 criteria provided, single submitter clinical testing

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