ClinVar Miner

Submissions for variant NM_001378477.3(NYX):c.1054_1055del (p.Val352fs)

dbSNP: rs1602181043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005047187 SCV005682906 pathogenic Congenital stationary night blindness 1A 2024-04-18 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003102 SCV001161167 pathogenic Congenital stationary night blindness 2019-06-23 no assertion criteria provided research

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