ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9342A>G (p.Pro3114=)

gnomAD frequency: 0.00002  dbSNP: rs181961185
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Total submissions: 5
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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 RCV000041948 SCV000065644 likely benign not specified 2011-03-02 criteria provided, single submitter clinical testing Pro3114Pro in exon 47 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.
Counsyl RCV000668119 SCV000792670 likely benign Usher syndrome type 2A; Retinitis pigmentosa 39 2017-07-06 criteria provided, single submitter clinical testing
Invitae RCV001450882 SCV001654500 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450910 SCV004182711 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450909 SCV004182712 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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