ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.369C>T (p.Gly123=)

gnomAD frequency: 0.00117  dbSNP: rs529594203
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000415915 SCV000227047 uncertain significance not provided 2014-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000415915 SCV000493579 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GUCY2D: BP4, BP7
Invitae RCV001079674 SCV001091959 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001706123 SCV001919660 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000415915 SCV001964930 likely benign not provided no assertion criteria provided clinical testing

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