Submissions for variant NM_006343.3(MERTK):c.60A>T (p.Arg20Ser)

gnomAD frequency: 0.03355  dbSNP: rs35898499

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081391	SCV000113322	benign	not specified	2013-08-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358600	SCV000415940	likely benign	Retinitis pigmentosa	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000086964	SCV001732139	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
DBGen Ocular Genomics	RCV003389454	SCV004101767	uncertain significance	Retinitis pigmentosa 38	2021-01-01	criteria provided, single submitter	clinical testing	Class 3 ACMG Guidelines, 2015
Breakthrough Genomics, Breakthrough Genomics	RCV000086964	SCV005262694	likely benign	not provided		criteria provided, single submitter	not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000086964	SCV000119217	not provided	not provided		no assertion provided	not provided