ClinVar Miner

Submissions for variant NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) (rs35365413)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000378015 SCV000339697 likely benign not specified 2016-02-22 criteria provided, single submitter clinical testing
Counsyl RCV000497748 SCV000800595 uncertain significance Achromatopsia 3 2017-09-19 criteria provided, single submitter clinical testing
Invitae RCV000881356 SCV001024524 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
OMIM RCV000005538 SCV000025720 uncertain significance Stargardt disease 1 2005-03-01 no assertion criteria provided literature only
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV000497748 SCV000575813 likely pathogenic Achromatopsia 3 2017-03-27 no assertion criteria provided research
Natera, Inc. RCV001276134 SCV001461985 benign Achromatopsia 2020-01-08 no assertion criteria provided clinical testing

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