ClinVar Miner

Submissions for variant NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln)

dbSNP: rs1799652893
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Total submissions: 2
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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 RCV003324557 SCV004030323 pathogenic Cone-rod dystrophy 2023-07-24 criteria provided, single submitter research Clinical significance based on ACMG v2.0
OMIM RCV001255184 SCV001431538 pathogenic Optic atrophy 13 with retinal and foveal abnormalities 2020-09-03 no assertion criteria provided literature only

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