Submissions for variant NM_003865.3(HESX1):c.374A>G (p.Asn125Ser)

gnomAD frequency: 0.07568  dbSNP: rs9878928

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000331830	SCV000334738	benign	not specified	2015-09-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000349887	SCV000445669	likely benign	Septo-optic dysplasia sequence	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385780	SCV000445670	likely benign	Combined Pituitary Hormone Deficiency, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000538449	SCV000647923	benign	Septo-optic dysplasia sequence; Growth hormone deficiency with pituitary anomalies	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001573812	SCV001942889	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 11748154, 19844116, 20981092, 21228398, 10599689, 27884173, 27013732, 25910213)
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573812	SCV001800205	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000331830	SCV001919855	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573812	SCV001928710	likely benign	not provided		no assertion criteria provided	clinical testing