Submissions for variant NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)

gnomAD frequency: 0.00476  dbSNP: rs202057391

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116590	SCV000150553	benign	not specified	2016-10-28	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224917	SCV000281291	likely benign	not provided	2016-01-07	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Ambry Genetics	RCV002313862	SCV000848150	likely benign	Inborn genetic diseases	2021-10-01	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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000785141	SCV000923703	uncertain significance	Intellectual disability, autosomal recessive 3	2019-01-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000224917	SCV001022782	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224917	SCV001151733	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CC2D1A: BS2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV000491268	SCV000299209	pathogenic	Smith-Magenis Syndrome-like	2016-08-15	flagged submission	research
PreventionGenetics, part of Exact Sciences	RCV003915140	SCV004731538	benign	CC2D1A-related disorder	2021-07-06	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).