ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) (rs768161152)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619737 SCV000738026 likely benign Cardiovascular phenotype 2017-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769811 SCV000901237 uncertain significance Cardiomyopathy 2015-09-25 criteria provided, single submitter clinical testing
Invitae RCV000464993 SCV000554595 likely benign Catecholaminergic polymorphic ventricular tachycardia 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213991 SCV000270804 likely benign not specified 2014-12-31 criteria provided, single submitter clinical testing p.Ala4442Ala in exon 91 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue. It is located with in the exonic part of the splice consensus but does not cause the splice site se quence to diverge from consensus.

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