Submissions for variant NM_001130823.3(DNMT1):c.117+19T>C

gnomAD frequency: 0.00552  dbSNP: rs77954383

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000421267	SCV000512831	benign	not specified	2016-03-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727715	SCV001157555	benign	not provided	2020-05-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058896	SCV002362135	benign	Hereditary sensory neuropathy-deafness-dementia syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001727715	SCV005311915	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000421267	SCV001923702	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727715	SCV001972672	likely benign	not provided		no assertion criteria provided	clinical testing