Submissions for variant NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr)

gnomAD frequency: 0.00021  dbSNP: rs200625964

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000597749	SCV000704801	uncertain significance	not provided	2016-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002315891	SCV000848249	likely benign	Inborn genetic diseases	2022-05-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000597749	SCV003459075	benign	not provided	2024-11-13	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV005027703	SCV005661462	likely benign	ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder	2024-05-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945402	SCV004766169	likely benign	ADNP-related disorder	2022-11-09	no assertion criteria provided	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).