ClinVar Miner

Submissions for variant NM_001164665.2(KIAA1549):c.2202G>A (p.Thr734=)

gnomAD frequency: 0.00001  dbSNP: rs772661539
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002157619 SCV002337642 likely benign not provided 2022-11-22 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889023 SCV004704856 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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