ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15321C>T (p.Pro5107=)

dbSNP: rs397518000
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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 RCV000041783 SCV000065479 likely benign not specified 2012-08-14 criteria provided, single submitter clinical testing Pro5107Pro in exon 71 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 wi thin the splice consensus sequence.
Invitae RCV002054837 SCV002342830 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450819 SCV004181548 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450818 SCV004181559 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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