Submissions for variant NM_033343.4(LHX4):c.450C>T (p.Asn150=)

gnomAD frequency: 0.04109  dbSNP: rs16855642

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246585	SCV000315211	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000341510	SCV000351525	benign	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Eurofins Ntd Llc (ga)	RCV000246585	SCV000708070	benign	not specified	2017-04-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001573015	SCV001882121	benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing
Invitae	RCV001573015	SCV002326628	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573015	SCV001798278	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246585	SCV001920644	benign	not specified		no assertion criteria provided	clinical testing