ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)

gnomAD frequency: 0.00026  dbSNP: rs137963595
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000900824 SCV001045165 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV000900824 SCV001777892 likely benign not provided 2020-02-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454939 SCV004182571 likely benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276948 SCV004182572 likely benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276948 SCV001463641 uncertain significance Usher syndrome type 2A 2020-02-13 no assertion criteria provided clinical testing

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