ClinVar Miner

Submissions for variant NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met)

gnomAD frequency: 0.00008  dbSNP: rs138886480
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000767082 SCV000572457 likely benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Invitae RCV001086960 SCV000659699 likely benign Dilated Cardiomyopathy, Dominant 2023-09-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000478978 SCV000711608 likely benign not specified 2017-03-30 criteria provided, single submitter clinical testing p.Leu235Met in exon 5 of CHRM2: This variant is not expected to have clinical si gnificance because it has been identified in 0.43% (35/8206) of East Asian chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs138886480).

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