ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)

dbSNP: rs747093432
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000496018 SCV000584090 pathogenic Cataract 18 2015-10-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV003222003 SCV003916811 pathogenic not provided 2024-07-01 criteria provided, single submitter clinical testing FYCO1: PVS1, PM3:Strong, PM2

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