ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)

dbSNP: rs121912526
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000015473 SCV000035738 pathogenic Gonadotropin-independent familial sexual precocity 1996-02-01 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000581515 SCV000692109 likely pathogenic Precocious puberty in males 2017-01-30 no assertion criteria provided clinical testing

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