ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5919G>A (p.Val1973=)

dbSNP: rs2102546199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center RCV001375228 SCV001571978 likely benign Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PM2_Moderate, BP4_Supporting, BP7_Supporting
Invitae RCV002070247 SCV002398145 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450034 SCV004181746 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450033 SCV004181748 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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