ClinVar Miner

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

gnomAD frequency: 0.76662  dbSNP: rs1800793
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Total submissions: 9
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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
Invitae RCV002054590 SCV002408243 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
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

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