Submissions for variant NM_000601.6(HGF):c.1272-4A>G

gnomAD frequency: 0.76662  dbSNP: rs1800793

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036551	SCV000060206	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	1272-4A>G in Intron 10 of HGF: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce and has been identified in 33.4% (1248/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS; dbSNP rs1800793).
PreventionGenetics, part of Exact Sciences	RCV000036551	SCV000305367	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000391680	SCV000470110	likely benign	Nonsyndromic Hearing Loss, Mixed	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000036551	SCV000716976	benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000624946	SCV000743168	benign	Autosomal recessive nonsyndromic hearing loss 39	2015-12-23	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000624946	SCV001934141	benign	Autosomal recessive nonsyndromic hearing loss 39	2021-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054590	SCV002408243	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002054590	SCV005227978	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000036551	SCV001917720	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000036551	SCV001959845	benign	not specified		no assertion criteria provided	clinical testing