ClinVar Miner

Submissions for variant NM_001378477.3(NYX):c.1293dup (p.Leu432fs)

dbSNP: rs2147026677
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542515 SCV001760516 likely pathogenic Congenital stationary night blindness 1A no assertion criteria provided clinical testing

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