ClinVar Miner

Submissions for variant NM_015557.3(CHD5):c.5249C>T (p.Thr1750Met)

gnomAD frequency: 0.00064  dbSNP: rs139581412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262899 SCV001440936 uncertain significance Neurodevelopmental disorder 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
PreventionGenetics, part of Exact Sciences RCV004731112 SCV005337517 likely benign CHD5-related disorder 2024-06-05 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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