ClinVar Miner

Submissions for variant NM_014249.4(NR2E3):c.119-2A>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471609 SCV004192062 likely pathogenic Enhanced S-cone syndrome 2022-10-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003643 SCV005631008 pathogenic Enhanced S-cone syndrome; Retinitis pigmentosa 37 2024-05-07 criteria provided, single submitter clinical testing

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