ClinVar Miner

Submissions for variant NC_000002.11:g.31757164_31770106del12943insCA

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000681614 SCV000807679 pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency 2018-09-15 criteria provided, single submitter clinical testing This deletion includes all of exon 2 (NM_000348.3).

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