ClinVar Miner

Submissions for variant NM_004727.3(SLC24A1):c.1822G>A (p.Val608Ile)

gnomAD frequency: 0.01683  dbSNP: rs35984752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248254 SCV000310624 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000343765 SCV000393352 likely benign Congenital stationary night blindness 1D 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000967368 SCV001114749 benign not provided 2024-01-29 criteria provided, single submitter clinical testing

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