ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)

gnomAD frequency: 0.00001  dbSNP: rs746221227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001047311 SCV001211261 likely benign not provided 2024-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497387 SCV002812164 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-07-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827299 SCV002088258 uncertain significance Usher syndrome type 2A 2020-03-04 no assertion criteria provided clinical testing

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