Submissions for variant NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)

gnomAD frequency: 0.00031  dbSNP: rs139007744

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000059801	SCV001001395	likely benign	not provided	2023-11-16	criteria provided, single submitter	clinical testing
Mendelics	RCV000988456	SCV001138179	benign	Hypogonadotropic hypogonadism 14 with or without anosmia	2023-08-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000059801	SCV002525421	uncertain significance	not provided	2023-06-27	criteria provided, single submitter	clinical testing	Published functional studies suggest that this variant results in a reduced capacity of the protein to enter the nucleus (Kim et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29330225, 22035731, 25254043, 27828722, 34426522, 35432193, Patil2022[paper], 36517585, 29263200, 20887964)
Institute of Human Genetics, University Hospital Muenster	RCV002287360	SCV002577931	uncertain significance	Hypogonadotropic hypogonadism	2021-11-15	criteria provided, single submitter	clinical testing	ACMG categories: PP2
CeGaT Center for Human Genetics Tuebingen	RCV000059801	SCV004699447	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	WDR11: PP3, PS3:Supporting, BS1, BS2
OMIM	RCV000988456	SCV000053523	pathogenic	Hypogonadotropic hypogonadism 14 with or without anosmia	2010-10-08	no assertion criteria provided	literature only
UniProtKB/Swiss-Prot	RCV000059801	SCV000091371	not provided	not provided		no assertion provided	not provided
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	RCV000988456	SCV004099410	uncertain significance	Hypogonadotropic hypogonadism 14 with or without anosmia	2023-10-30	no assertion criteria provided	clinical testing