Submissions for variant NM_000370.3(TTPA):c.359-3del

dbSNP: rs398123340

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078673	SCV000110532	benign	not specified	2013-08-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000383973	SCV000474658	benign	Familial isolated deficiency of vitamin E	2016-06-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590080	SCV000696610	benign	not provided	2016-12-18	criteria provided, single submitter	clinical testing	Variant summary: The TTPA c.359-3delA variant involves the alteration of a non-conserved intronic nucleotide. Mutation Taster predicts a benign outcome for this variant. 3/5 splice prediction tools via Alamut suggest no significant impact on a normal splicing pattern. The functional studies confirming these predictions are yet to be conducted. This variant is present in EXAC at a frequency of 1% (119075 / 119076 control chrs). The variant of interest has been classified as benign by reputable databases/clinical diagnostic laboratories. Taken together, based on the frequency in the general population, the variant was classified as Benign.
Mendelics	RCV000383973	SCV001137640	benign	Familial isolated deficiency of vitamin E	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000078673	SCV001475829	benign	not specified	2019-10-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000590080	SCV001727112	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000590080	SCV001888694	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000383973	SCV002514135	benign	Familial isolated deficiency of vitamin E	2021-12-05	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000383973	SCV001461512	benign	Familial isolated deficiency of vitamin E	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000078673	SCV001743655	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000078673	SCV001975202	benign	not specified		no assertion criteria provided	clinical testing