Submissions for variant NM_031433.4(MFRP):c.773-9C>T

gnomAD frequency: 0.00176  dbSNP: rs187321874

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179981	SCV000232312	benign	not specified	2014-10-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000285258	SCV000368006	uncertain significance	Retinal degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340484	SCV000368007	uncertain significance	Isolated microphthalmia 6	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877972	SCV001020795	benign	Isolated microphthalmia 5	2024-01-31	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000179981	SCV001979020	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729431	SCV001980507	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004734801	SCV005352431	benign	MFRP-related disorder	2024-03-07	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).