ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)

gnomAD frequency: 0.00047  dbSNP: rs201414567
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000132567 SCV000227046 uncertain significance not provided 2016-02-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079675 SCV001021263 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000989734 SCV001140278 benign Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132567 SCV000172505 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Clinical Genetics, Academic Medical Center RCV000132567 SCV001920694 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001725998 SCV001968210 benign not specified no assertion criteria provided clinical testing

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