ClinVar Miner

Submissions for variant NM_000233.4(LHCGR):c.50_55dup (p.Leu17_Gln18dup) (rs71245621)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000303287 SCV000331441 benign not specified 2016-08-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000378063 SCV000431077 benign Gonadotropin-independent familial sexual precocity 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283585 SCV000431078 benign Hypergonadotropic hypogonadism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319880 SCV000431079 benign Leydig cell hypoplasia, type 1 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000303287 SCV000614018 benign not specified 2017-07-26 criteria provided, single submitter clinical testing
GeneDx RCV000303287 SCV000728653 benign not specified 2017-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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