ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12696A>G (p.Pro4232=)

gnomAD frequency: 0.00001  dbSNP: rs113805451
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901730 SCV001046116 likely benign not provided 2024-10-08 criteria provided, single submitter clinical testing
GeneDx RCV000901730 SCV001941390 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454941 SCV004181960 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454940 SCV004181961 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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