ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.627G>A (p.Lys209=)

gnomAD frequency: 0.00003  dbSNP: rs146402815
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Total submissions: 4
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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 RCV000041883 SCV000065579 likely benign not specified 2013-08-06 criteria provided, single submitter clinical testing Lys209Lys variant in Exon 3 of USH2A: This variant is not expected to have clini cal significance because it does not alter an amino acid residue and is not loca ted near a splice junction.
Invitae RCV002054839 SCV002480805 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450871 SCV004182963 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450870 SCV004182964 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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