ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.610C>T (p.Leu204=)

gnomAD frequency: 0.01070  dbSNP: rs61996322
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000332756 SCV000431053 likely benign Hypergonadotropic hypogonadism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000368668 SCV000431054 likely benign Gonadotropin-independent familial sexual precocity 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000274137 SCV000431055 likely benign Leydig cell agenesis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000903367 SCV001047830 benign not provided 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000903367 SCV001824656 likely benign not provided 2021-04-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000903367 SCV004042073 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing LHCGR: BP4, BP7, BS2

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