Submissions for variant NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)

gnomAD frequency: 0.00496  dbSNP: rs138888144

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001802640	SCV002049171	likely benign	Elliptocytosis 1	2023-04-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002074170	SCV002440990	likely benign	not provided	2024-10-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002542351	SCV003712576	uncertain significance	Inborn genetic diseases	2024-04-20	criteria provided, single submitter	clinical testing	The c.1073G>A (p.G358D) alteration is located in exon 13 (coding exon 10) of the EPB41 gene. This alteration results from a G to A substitution at nucleotide position 1073, causing the glycine (G) at amino acid position 358 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV002074170	SCV004009748	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	EPB41: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV002074170	SCV005257821	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003931342	SCV004741605	likely benign	EPB41-related disorder	2020-04-16	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).