ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu)

gnomAD frequency: 0.00106  dbSNP: rs146149224
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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) RCV000585411 SCV000226559 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585411 SCV000692893 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083338 SCV001100631 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003982924 SCV004799872 likely benign GUCY2D-related disorder 2019-05-06 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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