ClinVar Miner

Submissions for variant NM_017541.4(CRYGS):c.53G>T (p.Gly18Val)

dbSNP: rs104893736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003315504 SCV004015330 pathogenic Retinitis pigmentosa 2023-07-25 criteria provided, single submitter clinical testing
OMIM RCV000018444 SCV000038726 pathogenic Cataract 20 multiple types 2005-09-01 no assertion criteria provided literature only

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