Submissions for variant NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)

gnomAD frequency: 0.00035  dbSNP: rs575642464

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625153	SCV000743899	likely benign	KBG syndrome	2017-01-25	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625153	SCV000745327	likely benign	KBG syndrome	2016-02-12	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000626913	SCV000747616	uncertain significance	Global developmental delay; Seizure; Atypical behavior; Macrocephaly; Hand tremor	2017-01-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710575	SCV000840817	likely benign	not provided	2018-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317376	SCV000850757	likely benign	Inborn genetic diseases	2018-07-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000710575	SCV001851648	benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Invitae	RCV000625153	SCV002934725	likely benign	KBG syndrome	2023-08-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710575	SCV004143425	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003945569	SCV004760236	likely benign	ANKRD11-related condition	2023-08-10	criteria provided, single submitter	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710575	SCV001798038	likely benign	not provided		no assertion criteria provided	clinical testing