ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2109C>T (p.Tyr703=)

gnomAD frequency: 0.00071  dbSNP: rs377090818
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914872 SCV001060060 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000914872 SCV004157483 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing EYS: BP4, BP7
Natera, Inc. RCV001277009 SCV001463739 uncertain significance Retinitis pigmentosa 25 2019-11-11 no assertion criteria provided clinical testing

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