ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) (rs370297602)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000221603 SCV000270803 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ser4221Ser in Exon 90 of RYR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence. It has been identified in 0.1% (3/3310) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS;).
Invitae RCV000543000 SCV000637502 benign Catecholaminergic polymorphic ventricular tachycardia 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001175631 SCV001339303 benign Cardiomyopathy 2019-01-20 criteria provided, single submitter clinical testing

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