ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3858C>T (p.Asp1286=)

gnomAD frequency: 0.00011  dbSNP: rs374941270
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941292 SCV001087175 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960544 SCV004782553 likely benign EYS-related condition 2019-09-13 criteria provided, single submitter 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).
Natera, Inc. RCV001274980 SCV001459625 uncertain significance Retinitis pigmentosa 25 2020-01-17 no assertion criteria provided clinical testing

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