ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.852T>G (p.Leu284=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005038633 SCV005666948 uncertain significance Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005102944 SCV005808267 likely benign not provided 2024-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545484 SCV004774943 likely benign GATAD2B-related disorder 2023-08-10 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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