ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=)

dbSNP: rs151218177
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882198 SCV001025426 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000882198 SCV001909631 benign not provided 2019-12-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253662 SCV002524765 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000882198 SCV004124765 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing AHDC1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003955846 SCV004782117 likely benign AHDC1-related disorder 2021-04-21 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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