ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3774A>G (p.Thr1258=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003069105 SCV003466581 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003069105 SCV005437053 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing EYS: BP4, BP7

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