ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5101C>T (p.Leu1701=)

gnomAD frequency: 0.00002  dbSNP: rs776193099
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000980657 SCV001128613 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272884 SCV001455306 likely benign Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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