Submissions for variant NM_031433.4(MFRP):c.492C>T (p.Tyr164=)

gnomAD frequency: 0.23503  dbSNP: rs36015759

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153497	SCV000203015	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000153497	SCV000314780	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000381081	SCV000368019	likely benign	Retinal degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267889	SCV000368020	likely benign	Isolated microphthalmia 6	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511281	SCV001718492	benign	Isolated microphthalmia 5	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000132684	SCV001912970	benign	not provided	2020-04-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000132684	SCV005211834	likely benign	not provided		criteria provided, single submitter	not provided
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132684	SCV000172637	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.