Submissions for variant NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly)

dbSNP: rs576742682

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000991531	SCV001143029	benign	not provided	2018-09-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000991531	SCV001768075	likely benign	not provided	2021-03-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253763	SCV002525155	benign	KBG syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002253763	SCV003248293	benign	KBG syndrome	2024-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002549761	SCV003756376	likely benign	Inborn genetic diseases	2021-09-15	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000991531	SCV005219666	likely benign	not provided		criteria provided, single submitter	not provided