ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.542-16C>T

gnomAD frequency: 0.80104  dbSNP: rs3802758
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244182 SCV000310660 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515578 SCV001723676 benign Peroxisome biogenesis disorder 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000676060 SCV001882946 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788123 SCV002029579 benign Peroxisome biogenesis disorder 8A (Zellweger) 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788124 SCV002029580 benign Peroxisome biogenesis disorder 8B 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676060 SCV005320139 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000676060 SCV000801794 benign not provided 2015-10-21 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000244182 SCV001922698 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000244182 SCV001963261 benign not specified no assertion criteria provided clinical testing

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