ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn) (rs11120645)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041953 SCV000065649 benign not specified 2008-08-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993544 SCV001146623 benign not provided 2019-02-11 criteria provided, single submitter clinical testing
Invitae RCV000993544 SCV001716543 benign not provided 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000993544 SCV001739137 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001273703 SCV001750313 benign Usher syndrome, type 2A 2021-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273703 SCV001457072 benign Usher syndrome, type 2A 2020-09-16 no assertion criteria provided clinical testing

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