ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2155C>T (p.Leu719=)

gnomAD frequency: 0.00111  dbSNP: rs151106252
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000947765 SCV001093952 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-01-26 criteria provided, single submitter clinical testing

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