ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn)

gnomAD frequency: 0.00118  dbSNP: rs145274061
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940680 SCV001086545 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073827 SCV001239391 uncertain significance Retinal dystrophy 2018-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274973 SCV001459617 uncertain significance Autosomal recessive retinitis pigmentosa 2020-06-24 no assertion criteria provided clinical testing

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