Submissions for variant NM_003865.3(HESX1):c.525G>A (p.Ala175=)

gnomAD frequency: 0.00123  dbSNP: rs141063672

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724721	SCV000230217	uncertain significance	not provided	2017-06-08	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203047	SCV000257942	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087290	SCV001021231	likely benign	Septo-optic dysplasia sequence; GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001147432	SCV001308256	uncertain significance	Septo-optic dysplasia sequence	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000724721	SCV004150364	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	HESX1: BP4, BP7
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000724721	SCV001798591	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000203047	SCV001923689	benign	not specified		no assertion criteria provided	clinical testing