Submissions for variant NM_000327.4(ROM1):c.686G>A (p.Arg229His)

gnomAD frequency: 0.00375  dbSNP: rs150168119

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000175584	SCV000227096	benign	not specified	2014-12-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376751	SCV000372851	likely benign	Retinitis pigmentosa	2018-03-06	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.
Mendelics	RCV000986135	SCV001135031	benign	not provided	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519710	SCV001728629	benign	Larsen-like syndrome, B3GAT3 type	2020-08-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000986135	SCV004132257	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	ROM1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000986135	SCV005212987	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000986135	SCV001799342	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000986135	SCV001918594	likely benign	not provided		no assertion criteria provided	clinical testing