ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1460-5del

dbSNP: rs771064426
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV001522429 SCV001731974 benign not provided 2024-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908875 SCV004720093 likely benign EYS-related disorder 2019-08-13 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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