ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2491C>T (p.Leu831=)

dbSNP: rs771641368
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592902 SCV000707339 uncertain significance not provided 2017-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399833 SCV001601632 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-26 criteria provided, single submitter clinical testing

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