ClinVar Miner

Submissions for variant NM_001384910.1(GUCA1A):c.442G>C (p.Asp148His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel RCV003324699 SCV004030412 likely pathogenic Cone-rod dystrophy 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0

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