Submissions for variant NM_004715.5(CTDP1):c.2274G>A (p.Pro758=)

gnomAD frequency: 0.00288  dbSNP: rs140627086

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194350	SCV000247136	likely benign	not specified	2016-04-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000194350	SCV000332193	likely benign	not specified	2015-06-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000966057	SCV001113344	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000966057	SCV002563483	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CTDP1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000966057	SCV005205908	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000194350	SCV001920271	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000194350	SCV001932337	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000966057	SCV001972271	likely benign	not provided		no assertion criteria provided	clinical testing