ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.3198A>G (p.Glu1066=) (rs727504601)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155848 SCV000205559 likely benign not specified 2013-06-12 criteria provided, single submitter clinical testing Glu1066Glu in exon 15 of DSG2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. Glu1066Glu in exon 15 of DSG2 (allele freque ncy = n/a)
Invitae RCV001402098 SCV001603942 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-06-21 criteria provided, single submitter clinical testing

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