ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1872G>A (p.Ser624=)

gnomAD frequency: 0.00075  dbSNP: rs148411571
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 RCV000881248 SCV001024406 likely benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276906 SCV001463556 likely benign Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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