Submissions for variant NM_014915.3(ANKRD26):c.624A>G (p.Val208=)

gnomAD frequency: 0.23613  dbSNP: rs2297145

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247701	SCV000312261	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000284156	SCV000362075	benign	Thrombocytopenia 2	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001683072	SCV001902521	benign	not provided	2018-11-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000284156	SCV002049391	benign	Thrombocytopenia 2	2024-11-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000284156	SCV002539551	benign	Thrombocytopenia 2	2021-12-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001683072	SCV003337241	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001683072	SCV005316294	benign	not provided		criteria provided, single submitter	not provided