ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)

gnomAD frequency: 0.00040  dbSNP: rs201071654
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000607419 SCV000712960 benign not specified 2017-02-16 criteria provided, single submitter clinical testing p.Pro3114Ser in exon 47 of USH2A: This variant is not expected to have clinical significance because it has been identified in 1.1% of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s20107654).
GeneDx RCV000937131 SCV000730336 benign not provided 2019-11-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24938718, 26496393, 19023448)
Labcorp Genetics (formerly Invitae), Labcorp RCV000937131 SCV001082906 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498894 SCV002813527 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2021-11-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451372 SCV004182713 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001834931 SCV004182714 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889934 SCV004707909 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001834931 SCV002088406 benign Usher syndrome type 2A 2019-11-11 no assertion criteria provided clinical testing

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