ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg)

gnomAD frequency: 0.00013  dbSNP: rs755572135
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194060 SCV000248670 likely benign not specified 2015-02-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000194060 SCV000335747 likely benign not specified 2016-01-28 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001853104 SCV002010927 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Invitae RCV001853104 SCV002274286 likely benign not provided 2024-01-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001853104 SCV004009760 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing RAI1: BS2
University of Arizona Genetics Core, University of Arizona RCV000239360 SCV000196150 pathogenic Autosomal recessive nonsyndromic hearing loss 9 no assertion criteria provided research

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