ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)

gnomAD frequency: 0.00004  dbSNP: rs775075094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000993537 SCV001146597 uncertain significance not provided 2019-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481758 SCV002777211 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2021-08-11 criteria provided, single submitter clinical testing
Invitae RCV000993537 SCV003256699 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827140 SCV002088311 uncertain significance Usher syndrome type 2A 2020-02-12 no assertion criteria provided clinical testing

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