ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1590A>T (p.Thr530=)

gnomAD frequency: 0.00015  dbSNP: rs144343161
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Total submissions: 5
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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 RCV000041793 SCV000065489 likely benign not specified 2010-09-16 criteria provided, single submitter clinical testing Thr530Thr in exon 9 of USH2A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.
Eurofins Ntd Llc (ga) RCV000726814 SCV000703240 uncertain significance not provided 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000726814 SCV001054861 likely benign not provided 2023-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000726814 SCV001802010 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826593 SCV002093980 likely benign Usher syndrome type 2A 2020-11-02 no assertion criteria provided clinical testing

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