Submissions for variant NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala)

gnomAD frequency: 0.00281  dbSNP: rs200660997

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514265	SCV000610463	likely benign	not provided	2017-06-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514265	SCV001047858	benign	not provided	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000514265	SCV001871993	benign	not provided	2018-10-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253498	SCV002524789	benign	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002253498	SCV002808514	likely benign	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome	2022-02-15	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514265	SCV004124780	benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	AHDC1: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514265	SCV005257743	likely benign	not provided		criteria provided, single submitter	not provided