Submissions for variant NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr)

gnomAD frequency: 0.00488  dbSNP: rs79544660

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174716	SCV000226072	benign	not specified	2015-05-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267725	SCV000459333	uncertain significance	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625227	SCV000744201	likely benign	Retinitis pigmentosa 62	2017-06-28	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000174716	SCV000864339	likely benign	not specified	2017-05-08	criteria provided, single submitter	clinical testing	BS1,BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools.
CeGaT Center for Human Genetics Tuebingen	RCV000762391	SCV000892703	likely benign	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000762391	SCV001115513	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625227	SCV002048788	likely benign	Retinitis pigmentosa 62	2023-11-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000762391	SCV001920263	likely benign	not provided		no assertion criteria provided	clinical testing