Submissions for variant NM_001130823.3(DNMT1):c.1782A>G (p.Thr594=)

gnomAD frequency: 0.99062  dbSNP: rs721186

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247150	SCV000306765	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000306290	SCV000410240	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	RCV000306290	SCV001717269	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001534627	SCV001751557	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001658197	SCV001875655	benign	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000306290	SCV001875658	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2021-07-30	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001534627	SCV005309710	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000247150	SCV001741295	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000247150	SCV001920646	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000247150	SCV001955399	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000247150	SCV001974206	benign	not specified		no assertion criteria provided	clinical testing