ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.147+77_147+121del

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000947414 SCV001093592 likely benign Peroxisome biogenesis disorder 2B 2024-01-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000947414 SCV001428859 uncertain significance Peroxisome biogenesis disorder 2B 2018-10-01 criteria provided, single submitter clinical testing
GeneDx RCV001692325 SCV001908493 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788382 SCV002029588 benign Peroxisome biogenesis disorder 2A (Zellweger) 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000947414 SCV002029591 benign Peroxisome biogenesis disorder 2B 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788383 SCV002029592 benign Rhizomelic chondrodysplasia punctata type 5 2021-09-05 criteria provided, single submitter clinical testing

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