Submissions for variant NM_001985.3(ETFB):c.58-57dup

dbSNP: rs74357706

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001535408	SCV000238824	benign	not provided	2018-06-05	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000185872	SCV000539117	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in ESP (all): 406/12518=3.24%
Molecular Genetics, Royal Melbourne Hospital	RCV000721998	SCV004812467	benign	Multiple acyl-CoA dehydrogenase deficiency	2023-05-04	criteria provided, single submitter	clinical testing	South Asian population allele frequency is 4.479% (rs141529162, 1,433/30,614 alleles, 58 homozygotes in gnomAD v2.1). Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.1.0, this variant is classified as BENIGN. Following criteria are met: BA1
SingHealth Duke-NUS Institute of Precision Medicine	RCV000721998	SCV000853160	uncertain significance	Multiple acyl-CoA dehydrogenase deficiency	2017-06-07	no assertion criteria provided	curation