ClinVar Miner

Submissions for variant NM_002857.4(PEX19):c.630A>C (p.Leu210=)

dbSNP: rs202174805
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
Illumina Laboratory Services, Illumina RCV000369356 SCV000350074 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059339 SCV002478211 likely benign Peroxisome biogenesis disorder 12A (Zellweger) 2024-12-19 criteria provided, single submitter clinical testing

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