ClinVar Miner

Submissions for variant NM_000414.4(HSD17B4):c.*250dup (rs34381335)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000396348 SCV000452165 benign Bifunctional peroxisomal enzyme deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285560 SCV000452166 benign Perrault syndrome 2016-06-14 criteria provided, single submitter clinical testing

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