ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.340-71G>A (rs927181)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987791 SCV001137244 benign Rhizomelic chondrodysplasia punctata type 1 2019-05-28 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001543970 SCV001762885 benign Peroxisome biogenesis disorder 9B 2021-07-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000987791 SCV001762886 benign Rhizomelic chondrodysplasia punctata type 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001683706 SCV001901971 benign not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30747064)

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