ClinVar Miner

Submissions for variant NM_000601.6(HGF):c.471A>G (p.Pro157=)

gnomAD frequency: 0.00015  dbSNP: rs142045938
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Total submissions: 3
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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 RCV000219529 SCV000270267 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Pro157Pro in Exon 04 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 2/7020 European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs142045938).
Illumina Laboratory Services, Illumina RCV000362654 SCV000470115 uncertain significance Nonsyndromic Hearing Loss, Mixed 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001560919 SCV001783419 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing

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