ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.130+48_130+53dup

gnomAD frequency: 0.50803  dbSNP: rs11283064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001673006 SCV001888412 benign not provided 2018-09-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788401 SCV002029596 benign Peroxisome biogenesis disorder 9B 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788400 SCV002029597 benign Rhizomelic chondrodysplasia punctata type 1 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001027952 SCV001190694 benign Rhizomelic chondrodysplasia punctata 2019-05-20 no assertion criteria provided clinical testing

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