Submissions for variant NM_001013838.3(CARMIL2):c.2887G>A (p.Ala963Thr)

gnomAD frequency: 0.00158  dbSNP: rs760147008

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001513142	SCV001720691	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001513142	SCV001747840	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	CARMIL2: BS2
Ambry Genetics	RCV002564317	SCV003684200	uncertain significance	Inborn genetic diseases	2021-09-15	criteria provided, single submitter	clinical testing	The c.2887G>A (p.A963T) alteration is located in exon 29 (coding exon 29) of the CARMIL2 gene. This alteration results from a G to A substitution at nucleotide position 2887, causing the alanine (A) at amino acid position 963 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003908814	SCV004721186	likely benign	CARMIL2-related disorder	2022-02-26	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).