Submissions for variant NM_014254.3(RXYLT1):c.252C>T (p.Ser84=)

gnomAD frequency: 0.00141  dbSNP: rs141095352

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724854	SCV000227428	uncertain significance	not provided	2015-06-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000244657	SCV000312117	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000244657	SCV000525011	likely benign	not specified	2017-12-13	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.
Invitae	RCV000724854	SCV000652995	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724854	SCV002063055	likely benign	not provided	2022-01-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724854	SCV001928518	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724854	SCV001972718	likely benign	not provided		no assertion criteria provided	clinical testing