ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.1314A>G (p.Pro438=)

gnomAD frequency: 0.00003  dbSNP: rs375043207
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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 RCV002069454 SCV002348565 likely benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486059 SCV002796056 likely benign Retinitis pigmentosa 25 2021-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279303 SCV001466391 uncertain significance Autosomal recessive retinitis pigmentosa 2020-11-09 no assertion criteria provided clinical testing

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