ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8634C>T (p.Ala2878=)

gnomAD frequency: 0.00001  dbSNP: rs763174826
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 RCV002069427 SCV002339869 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278449 SCV001465462 uncertain significance Autosomal recessive retinitis pigmentosa 2020-10-05 no assertion criteria provided clinical testing

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