ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2034C>T (p.Phe678=)

gnomAD frequency: 0.00002  dbSNP: rs776298636
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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) RCV000596496 SCV000708867 uncertain significance not provided 2017-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087201 SCV001049853 likely benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-14 criteria provided, single submitter clinical testing

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