Submissions for variant NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)

dbSNP: rs796064513

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000351108	SCV000357931	uncertain significance	Disorders of Intracellular Cobalamin Metabolism	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000190394	SCV001017859	likely benign	Cobalamin C disease	2024-01-29	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000190394	SCV001527836	uncertain significance	Cobalamin C disease	2018-10-11	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Pars Genome Lab	RCV000190394	SCV001652880	uncertain significance	Cobalamin C disease	2021-05-18	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000190394	SCV004237854	likely benign	Cobalamin C disease	2022-12-13	criteria provided, single submitter	clinical testing
Inserm U 954, Faculté de Médecine de Nancy	RCV000190394	SCV000243928	not provided	Cobalamin C disease		no assertion provided	not provided
PreventionGenetics, part of Exact Sciences	RCV004755801	SCV005350599	likely benign	MMACHC-related disorder	2024-07-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).