ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)

gnomAD frequency: 0.00006  dbSNP: rs141917231
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000978002 SCV001125926 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000978002 SCV001812435 likely benign not provided 2019-09-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454979 SCV004183282 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271987 SCV004183283 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271987 SCV001453615 uncertain significance Usher syndrome type 2A 2020-02-13 no assertion criteria provided clinical testing

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