ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2577G>T (p.Pro859=)

gnomAD frequency: 0.00461  dbSNP: rs112372281
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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) RCV000174665 SCV000226004 benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000174665 SCV000539263 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000174665 SCV000603861 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000547270 SCV000649518 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing

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