ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)

gnomAD frequency: 0.20071  dbSNP: rs8069344
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248393 SCV000302887 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989741 SCV001140285 benign Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517915 SCV001726523 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001651111 SCV001870098 benign not provided 2018-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11035546, 17964524, 18161624, 29178642, 17344846, 20079931, 16741161)
Genome-Nilou Lab RCV001702377 SCV001934045 benign Choroidal dystrophy, central areolar, 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989741 SCV001934046 benign Cone-rod dystrophy 6 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701716 SCV001934047 benign Leber congenital amaurosis 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702378 SCV001934048 benign Night blindness, congenital stationary, type1i 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651111 SCV005251563 benign not provided criteria provided, single submitter not provided

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