Submissions for variant NM_000601.6(HGF):c.1008G>A (p.Glu336=)

gnomAD frequency: 0.00202  dbSNP: rs148714837

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036550	SCV000060205	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Glu336Glu in Exon 08 of HGF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 0.3% (24/7020) of Europ ean American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs148714837).
Eurofins Ntd Llc (ga)	RCV000727188	SCV000706486	uncertain significance	not provided	2017-03-09	criteria provided, single submitter	clinical testing
GeneDx	RCV000727188	SCV000723934	likely benign	not provided	2020-11-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625228	SCV000744221	likely benign	Autosomal recessive nonsyndromic hearing loss 39	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000727188	SCV001044567	benign	not provided	2023-12-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727188	SCV001155098	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	HGF: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000036550	SCV001921465	benign	not specified		no assertion criteria provided	clinical testing