ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5619C>T (p.Val1873=)

gnomAD frequency: 0.00019  dbSNP: rs138416665
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000305881 SCV000343165 uncertain significance not provided 2016-07-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000305881 SCV002375222 likely benign not provided 2023-09-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888690 SCV004707987 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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