ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr)

dbSNP: rs772318314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203165 SCV000257745 uncertain significance not specified 2015-06-17 criteria provided, single submitter clinical testing
Invitae RCV002515495 SCV003494809 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003897439 SCV004710674 likely benign AHDC1-related disorder 2021-04-28 criteria provided, single submitter 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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