ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1119G>A (p.Val373=)

gnomAD frequency: 0.01951  dbSNP: rs56034424
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536900 SCV000649517 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001550680 SCV001474516 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001550680 SCV001771050 likely benign not provided 2021-05-23 criteria provided, single submitter clinical testing

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