ClinVar Miner

Submissions for variant NM_004727.3(SLC24A1):c.2326G>C (p.Glu776Gln)

gnomAD frequency: 0.00012  dbSNP: rs150992293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000132652 SCV001635974 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935225 SCV004751569 likely benign SLC24A1-related condition 2019-09-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Department of Ophthalmology and Visual Sciences Kyoto University RCV000132652 SCV000172603 probable-non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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