ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3438-9_3438-8del

dbSNP: rs536305273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441217 SCV001644140 likely benign Cataract 18 2023-11-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003946153 SCV004762967 likely benign FYCO1-related disorder 2023-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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