ClinVar Miner

Submissions for variant NM_001378477.3(NYX):c.828G>A (p.Glu276=)

gnomAD frequency: 0.00379  dbSNP: rs3810733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000306533 SCV000482305 likely benign Congenital stationary night blindness 1A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000894500 SCV001038486 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000894500 SCV005209270 likely benign not provided criteria provided, single submitter not provided

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