ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7723+9T>C

gnomAD frequency: 0.00021  dbSNP: rs766087392
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000903897 SCV001048387 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502679 SCV002813799 likely benign Retinitis pigmentosa 25 2021-07-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003923031 SCV004744141 likely benign EYS-related condition 2019-09-20 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. RCV001272963 SCV001455477 uncertain significance Retinitis pigmentosa 2020-04-16 no assertion criteria provided clinical testing

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