ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)

gnomAD frequency: 0.00086  dbSNP: rs192115090
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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 RCV000152601 SCV000201896 benign not specified 2015-10-20 criteria provided, single submitter clinical testing p.Pro2210Ala in exon 34 of USH2A:This variant is not expected to have clinical significance because it has been identified in 1% (84/8568) of East Asian chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs192115090).
GeneDx RCV000834972 SCV000976744 benign not provided 2020-03-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24938718, 29625443, 31904091)
Labcorp Genetics (formerly Invitae), Labcorp RCV000834972 SCV001038685 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498717 SCV002808622 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2022-04-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453128 SCV004181639 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001826814 SCV004181640 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888578 SCV004707965 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001826814 SCV002090880 likely benign Usher syndrome type 2A 2020-05-03 no assertion criteria provided clinical testing

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