ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly)

gnomAD frequency: 0.00145  dbSNP: rs111941243
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883642 SCV001026966 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000883642 SCV001865871 benign not provided 2019-07-24 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253665 SCV002524754 benign AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975556 SCV004786738 benign AHDC1-related disorder 2019-09-05 criteria provided, single submitter 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).
CeGaT Center for Human Genetics Tuebingen RCV000883642 SCV004811262 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing AHDC1: BS1

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