Submissions for variant NM_031433.4(MFRP):c.641+9C>T

gnomAD frequency: 0.00337  dbSNP: rs189840088

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179000	SCV000231188	likely benign	not specified	2014-11-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000878016	SCV001020855	benign	Isolated microphthalmia 5	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001729430	SCV002821672	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	C1QTNF5: BS2; MFRP: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001729430	SCV005211812	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000179000	SCV001978890	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729430	SCV001980653	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537476	SCV004741228	likely benign	MFRP-related disorder	2019-06-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).