ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly) (rs121912518)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517056 SCV000614017 pathogenic not provided 2017-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763499 SCV000894285 pathogenic Leydig cell agenesis; Gonadotropin-independent familial sexual precocity 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000015461 SCV000035726 pathogenic Gonadotropin-independent familial sexual precocity 1998-07-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000583503 SCV000692111 pathogenic Precocious puberty in males 2012-11-09 no assertion criteria provided clinical testing

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