ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.888C>T (p.His296=) (rs397517029)

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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 RCV000038228 SCV000061896 likely benign not specified 2012-07-30 criteria provided, single submitter clinical testing His296His in exon 03 of PKP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. His296His in exon 03 of PKP2 (allele frequen cy= n/a)
Invitae RCV000640029 SCV000761616 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-11-07 criteria provided, single submitter clinical testing

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