Submissions for variant NM_000216.4(ANOS1):c.1759G>T (p.Val587Leu)

gnomAD frequency: 0.00268  dbSNP: rs137900287

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001573634	SCV000728584	likely benign	not provided	2021-03-04	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23643382, 22035731, 19377476, 26350515)
Invitae	RCV000860590	SCV001000690	benign	Hypogonadotropic hypogonadism 1 with or without anosmia	2024-01-04	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573634	SCV001799808	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000612848	SCV001921414	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001573634	SCV001953633	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000612848	SCV001970938	benign	not specified		no assertion criteria provided	clinical testing
Yale Center for Mendelian Genomics, Yale University	RCV001849406	SCV002106808	uncertain significance	Amenorrhea	2021-03-08	no assertion criteria provided	literature only