ClinVar Miner

Submissions for variant NM_004813.4(PEX16):c.346G>A (p.Val116Ile)

gnomAD frequency: 0.99994  dbSNP: rs10742772
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988533 SCV001138281 benign Peroxisome biogenesis disorder 1A (Zellweger) 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516101 SCV001724320 benign Peroxisome biogenesis disorder 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788386 SCV002029581 benign Peroxisome biogenesis disorder 8A (Zellweger) 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788387 SCV002029582 benign Peroxisome biogenesis disorder 8B 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718808 SCV005320140 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001699497 SCV001923441 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001699497 SCV001963429 benign not specified no assertion criteria provided clinical testing

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