ClinVar Miner

Submissions for variant NM_153818.1(PEX10):c.275G>A (p.Arg92His) (rs375649043)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669741 SCV000794520 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2017-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000669741 SCV000894769 uncertain significance Peroxisome biogenesis disorder 6A; Peroxisome biogenesis disorder 6B 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320556 SCV000355618 uncertain significance Peroxisome biogenesis disorder 1A (Zellweger) 2016-06-14 criteria provided, single submitter clinical testing

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