ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp)

gnomAD frequency: 0.00007  dbSNP: rs148277570
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000958448 SCV001105294 benign not provided 2024-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000958448 SCV001982694 benign not provided 2021-10-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002253724 SCV002524753 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 RCV003905785 SCV004727703 likely benign AHDC1-related disorder 2020-12-03 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).
CeGaT Center for Human Genetics Tuebingen RCV000958448 SCV005050237 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing AHDC1: BS1

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