ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13649T>G (p.Val4550Gly)

dbSNP: rs553956503
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487808 SCV000574808 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000487808 SCV001594873 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389473 SCV003927138 likely pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004541531 SCV004765316 likely benign USH2A-related disorder 2022-04-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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