ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1482A>G (p.Ser494=) (rs397516995)

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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 RCV000038165 SCV000061831 likely benign not specified 2012-08-15 criteria provided, single submitter clinical testing Ser494Ser in exon 6 of PKP2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ser494Ser in exon 6 of PKP2 (allele frequency = n/a)
Invitae RCV000640036 SCV000761624 likely benign not provided 2019-02-14 criteria provided, single submitter clinical testing

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