Submissions for variant NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)

gnomAD frequency: 0.00131  dbSNP: rs200161440

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440178	SCV000524194	likely benign	not provided	2021-06-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25616960, 26092869)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000560276	SCV000654881	benign	Joubert syndrome 21	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000440178	SCV002545622	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CSPP1: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV000440178	SCV005221621	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000440178	SCV001798206	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000440178	SCV001928770	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000440178	SCV001974651	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922770	SCV004744959	benign	CSPP1-related disorder	2019-08-26	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).