Submissions for variant NM_001130823.3(DNMT1):c.1044-9_1044-8del

dbSNP: rs59599980

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000375740	SCV000410247	benign	Dementia, Deafness, and Sensory Neuropathy	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510272	SCV001717271	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001573408	SCV001865107	benign	not provided	2019-08-20	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573408	SCV001799249	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001700061	SCV001925935	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700061	SCV001926547	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573408	SCV001971703	likely benign	not provided		no assertion criteria provided	clinical testing