ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1402dup (p.Cys468fs)

dbSNP: rs869312858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210395 SCV000258428 pathogenic Cerebral visual impairment and intellectual disability 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.
Solve-RD Consortium RCV004767157 SCV005200000 likely pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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