ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.747+20_747+24del

dbSNP: rs199624608
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001516174 SCV001724412 benign Peroxisome biogenesis disorder 9B 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000676102 SCV001843104 benign not provided 2018-03-16 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676102 SCV000801844 uncertain significance not provided 2015-12-15 no assertion criteria provided clinical testing
Natera, Inc. RCV001830471 SCV002077253 benign Rhizomelic chondrodysplasia punctata 2019-09-27 no assertion criteria provided clinical testing

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