ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter)

dbSNP: rs756653193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Academic Department of Medical Genetics, University of Cambridge RCV000850052 SCV000992194 likely pathogenic Hereditary cancer-predisposing syndrome 2018-01-26 criteria provided, single submitter research Application of AMCG guidelines 2015. Used other ClinVar submission evidence where relevant. Loss of heterozygosity in tumours or immunohistochemistry abnormalities considered functional evidence of pathogenicity.
Genomics England Pilot Project, Genomics England RCV001542761 SCV001760197 pathogenic Lynch syndrome 4 no assertion criteria provided clinical testing

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