ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)

gnomAD frequency: 0.00008  dbSNP: rs144655434
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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 RCV000979508 SCV001127452 likely benign not provided 2024-06-09 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890140 SCV004707864 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001274940 SCV001459523 likely benign Usher syndrome type 2A 2020-05-01 no assertion criteria provided clinical testing

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