ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser)

gnomAD frequency: 0.31673  dbSNP: rs61749665
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD LLC (GA) RCV000078318 SCV000110164 benign not specified 2016-03-16 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078318 SCV000302884 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001518075 SCV001726709 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000084835 SCV001751694 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000084835 SCV002049064 benign not provided 2021-11-30 criteria provided, single submitter clinical testing
Molecular Genetics, Royal Melbourne Hospital RCV002225071 SCV002503738 benign Cone-rod dystrophy 6 2021-10-04 criteria provided, single submitter clinical testing Population allele frequency is 40% (rs61749665, 54,832/138,790 alleles in gnomAD v2.0.2). Based on the classification scheme RMH ACMG Guidelines v1.1.1, this variant is classified as Benign. Following criteria met: BA1
OMIM RCV000009947 SCV000030168 pathogenic Leber congenital amaurosis 1 1998-08-01 no assertion criteria provided literature only
Retina International RCV000084835 SCV000116971 not provided not provided no assertion provided not provided
Department of Ophthalmology and Visual Sciences Kyoto University RCV000084835 SCV000172504 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000078318 SCV001740881 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000078318 SCV001921526 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000078318 SCV001956221 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000078318 SCV001972869 benign not specified no assertion criteria provided clinical testing

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