ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8458_8459del (p.Leu2820fs)

dbSNP: rs886040962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000258127 SCV000328191 pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia 2016-10-21 criteria provided, single submitter clinical testing

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