ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.513C>T (p.Pro171=) (rs199739341)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179454 SCV000231706 uncertain significance not provided 2014-09-03 criteria provided, single submitter clinical testing
Invitae RCV000179454 SCV001041932 likely benign not provided 2020-11-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276295 SCV001462409 uncertain significance Usher syndrome, type 1C 2020-04-11 no assertion criteria provided clinical testing

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