ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=)

gnomAD frequency: 0.00119  dbSNP: rs138452825
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000950363 SCV001096667 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000950363 SCV001914381 benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253708 SCV002524767 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 RCV000950363 SCV004124767 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing AHDC1: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV003933299 SCV004755565 benign AHDC1-related disorder 2019-03-15 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).

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