ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=)

gnomAD frequency: 0.00014  dbSNP: rs572555872
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521274 SCV001730584 benign not provided 2023-08-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888285 SCV004704882 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003908868 SCV004720816 likely benign KIAA1549-related disorder 2019-07-04 no assertion criteria provided 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).

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