Submissions for variant NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)

gnomAD frequency: 0.00095  dbSNP: rs139059149

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724369	SCV000231526	uncertain significance	not provided	2017-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000724369	SCV000490862	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000179300	SCV000615827	uncertain significance	not specified	2016-08-22	criteria provided, single submitter	clinical testing
Invitae	RCV000724369	SCV000628911	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314660	SCV000848767	likely benign	Inborn genetic diseases	2022-04-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
CeGaT Center for Human Genetics Tuebingen	RCV000724369	SCV001148176	uncertain significance	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000724369	SCV002541125	uncertain significance	not provided	2023-04-21	criteria provided, single submitter	clinical testing	BP4