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	RCV000710575	SCV000840817	likely benign	not provided	2018-04-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317376	SCV000850757	likely benign	Inborn genetic diseases	2022-03-25	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.
GeneDx	RCV000710575	SCV001851648	benign	not provided	2020-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	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	2024-08-01	criteria provided, single submitter	clinical testing	ANKRD11: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000710575	SCV001798038	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945569	SCV004760236	likely benign	ANKRD11-related disorder	2023-08-10	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).