ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1371C>T (p.Cys457=)

gnomAD frequency: 0.00340  dbSNP: rs55916957
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178056 SCV000230042 benign not specified 2015-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178056 SCV000302883 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519070 SCV001727875 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001675658 SCV001895270 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500500 SCV002808241 likely benign Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2022-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675658 SCV005251559 benign not provided criteria provided, single submitter not provided

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