ClinVar Miner

Submissions for variant NM_007127.3(VIL1):c.1514G>A (p.Arg505Gln)

gnomAD frequency: 0.00099  dbSNP: rs146529113
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000658900 SCV000780700 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000658900 SCV005188278 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003918100 SCV004733155 benign VIL1-related disorder 2019-05-01 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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