Submissions for variant NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile)

gnomAD frequency: 0.00348  dbSNP: rs76394680

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000219483	SCV000270061	likely benign	not specified	2015-06-26	criteria provided, single submitter	clinical testing	p.Val231Ile in exon 5 of CHRM2: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (299/65916) of European chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs76394680).
GeneDx	RCV000219483	SCV000525609	benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000554962	SCV000659698	benign	Dilated Cardiomyopathy, Dominant	2025-02-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004706669	SCV005226800	likely benign	not provided		criteria provided, single submitter	not provided