ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5262G>A (p.Pro1754=)

gnomAD frequency: 0.00001  dbSNP: rs779784002
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002537899 SCV003489569 likely benign not provided 2025-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280447 SCV001467627 uncertain significance Autosomal recessive retinitis pigmentosa 2020-09-12 no assertion criteria provided clinical testing

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