ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro)

gnomAD frequency: 0.00005  dbSNP: rs573367793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175541 SCV000227044 uncertain significance not provided 2014-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000175541 SCV001151197 likely benign not provided 2018-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056936 SCV002415673 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917627 SCV004729874 likely benign GUCY2D-related disorder 2019-05-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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