ClinVar Miner

Submissions for variant NM_001145678.3(KIAA0825):c.2551G>A (p.Ala851Thr)

gnomAD frequency: 0.23345  dbSNP: rs29910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731044 SCV001981006 benign Polydactyly, postaxial, type a10 2021-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003976119 SCV004800780 benign KIAA0825-related disorder 2019-11-04 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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