Submissions for variant NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)

gnomAD frequency: 0.00140  dbSNP: rs142951817

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000273498	SCV000338215	benign	not specified	2015-12-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000273498	SCV000714892	likely benign	not specified	2017-12-01	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625247	SCV000744310	likely benign	Ehlers-Danlos syndrome progeroid type	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000625247	SCV001118249	benign	Ehlers-Danlos syndrome progeroid type	2024-01-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200179	SCV001371072	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	B4GALT7: BS1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625247	SCV000745657	likely benign	Ehlers-Danlos syndrome progeroid type	2017-11-28	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001200179	SCV001798313	likely benign	not provided		no assertion criteria provided	clinical testing