ClinVar Miner

Submissions for variant NM_001371928.1(AHDC1):c.1814_1819delinsT (p.Ala605fs)

dbSNP: rs2148283415
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788491 SCV001712151 pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome 2021-05-13 no assertion criteria provided clinical testing

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