ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.162T>C (p.Ser54=)

gnomAD frequency: 0.00001  dbSNP: rs552583175
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176261 SCV002476216 benign Peroxisome biogenesis disorder 2024-02-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003395415 SCV004130036 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing PEX16: BP4, BP7

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