ClinVar Miner

Submissions for variant NM_000288.4(PEX7):c.904-1G>A

dbSNP: rs1413838301
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669307 SCV000794049 uncertain significance Rhizomelic chondrodysplasia punctata type 1 2017-09-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485548 SCV002800781 uncertain significance Phytanic acid storage disease; Rhizomelic chondrodysplasia punctata type 1; Peroxisome biogenesis disorder 9B 2021-10-11 criteria provided, single submitter clinical testing

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