Submissions for variant NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met)

gnomAD frequency: 0.00088  dbSNP: rs141025026

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Institute of Human Genetics, Cologne University	RCV001263160	SCV001441243	uncertain significance	Spectraplakinopathy type I	2020-09-30	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV001573392	SCV002343170	likely benign	not provided	2023-12-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002541604	SCV003758683	likely benign	Inborn genetic diseases	2021-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV001573392	SCV004127811	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	MACF1: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573392	SCV001799206	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573392	SCV001973775	likely benign	not provided		no assertion criteria provided	clinical testing