ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.741C>T (p.His247=)

gnomAD frequency: 0.10665  dbSNP: rs3829789
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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) RCV000078321 SCV000110167 benign not specified 2013-08-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078321 SCV000302893 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000838429 SCV000980296 benign not provided 2018-04-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001522237 SCV001731739 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838429 SCV005251558 benign not provided criteria provided, single submitter not provided

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