ClinVar Miner

Submissions for variant NM_001351132.2(PEX5):c.967-26C>G

gnomAD frequency: 0.29645  dbSNP: rs3816424
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676018 SCV001949339 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788322 SCV002029593 benign Peroxisome biogenesis disorder 2A (Zellweger) 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788321 SCV002029594 benign Peroxisome biogenesis disorder 2B 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788323 SCV002029595 benign Rhizomelic chondrodysplasia punctata type 5 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676018 SCV005237471 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676018 SCV000801752 benign not provided 2015-10-21 no assertion criteria provided clinical testing

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