ClinVar Miner

Submissions for variant NM_000197.2(HSD17B3):c.385+5G>A

dbSNP: rs1564030844
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV002275230 SCV002097638 uncertain significance Testosterone 17-beta-dehydrogenase deficiency criteria provided, single submitter clinical testing

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