ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.3001_3003delinsGAA (p.Asn1001Glu)

dbSNP: rs71622515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245683 SCV000314330 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277445 SCV000444663 uncertain significance Developmental cataract 2016-06-14 criteria provided, single submitter clinical testing
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center RCV003243032 SCV003936839 likely benign Cataract 18 2023-07-06 criteria provided, single submitter clinical testing

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