ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1116A>T (p.Ser372=)

dbSNP: rs754923350
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994254 SCV001147681 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV000994254 SCV002340414 likely benign not provided 2021-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455030 SCV004182906 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455029 SCV004182907 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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