Submissions for variant NM_001953.5(TYMP):c.831G>A (p.Leu277=)

gnomAD frequency: 0.03453  dbSNP: rs8141558

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126199	SCV000169694	benign	not specified	2011-07-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences	RCV000126199	SCV000308568	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000406103	SCV000439330	likely benign	Mitochondrial DNA depletion syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348879	SCV000484006	likely benign	Cytochrome-c oxidase deficiency disease	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000402916	SCV000484007	likely benign	Fatal Infantile Cardioencephalomyopathy	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000676462	SCV001146576	benign	not provided	2019-04-30	criteria provided, single submitter	clinical testing
Invitae	RCV000676462	SCV001721775	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676462	SCV000802244	benign	not provided	2016-02-29	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001276277	SCV001462371	benign	Mitochondrial neurogastrointestinal encephalomyopathy	2020-09-16	no assertion criteria provided	clinical testing