ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1047T>C (p.Asp349=)

gnomAD frequency: 0.00001  dbSNP: rs775053681
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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 RCV000902730 SCV001047165 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000902730 SCV001783569 likely benign not provided 2020-11-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454942 SCV004182915 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001277086 SCV004182916 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277086 SCV001463884 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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