Submissions for variant NM_001130823.3(DNMT1):c.290A>G (p.His97Arg)

gnomAD frequency: 0.00959  dbSNP: rs16999593

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246863	SCV000306768	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000246863	SCV000334352	benign	not specified	2015-09-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000525539	SCV000410268	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000525539	SCV000651295	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000991907	SCV001143761	benign	not provided	2018-08-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000991907	SCV001946941	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000991907	SCV005311912	benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000991907	SCV001799653	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246863	SCV001920345	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000991907	SCV001967527	likely benign	not provided		no assertion criteria provided	clinical testing