Submissions for variant NM_001130823.3(DNMT1):c.1044-8del

dbSNP: rs59599980

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000278836	SCV000410248	benign	Dementia, Deafness, and Sensory Neuropathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001521141	SCV001730415	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001660676	SCV001875661	benign	Autosomal dominant cerebellar ataxia, deafness and narcolepsy	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001521141	SCV001875662	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001573706	SCV001900045	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002502264	SCV002805992	benign	Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome	2021-10-01	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573706	SCV001799972	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726119	SCV001966980	benign	not specified		no assertion criteria provided	clinical testing