ClinVar Miner

Submissions for variant NM_000288.3(PEX7):c.-91G>A

gnomAD frequency: 0.00013  dbSNP: rs772358439
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000284622 SCV000460507 uncertain significance Phytanic acid storage disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000339668 SCV000460508 uncertain significance Rhizomelic chondrodysplasia punctata 2016-06-14 criteria provided, single submitter clinical testing

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