ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg)

gnomAD frequency: 0.00004  dbSNP: rs144524302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001448931 SCV001652035 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888158 SCV004707225 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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