ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.251-2A>C (rs587779340)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219075 SCV000278228 pathogenic Hereditary cancer-predisposing syndrome 2017-02-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position
CSER_CC_NCGL; University of Washington Medical Center RCV000735964 SCV000864153 likely pathogenic Colon polyps 2016-06-01 criteria provided, single submitter research Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 58 year old female with a personal history of 21-50 colon polyps and family history of colorectal cancer and/or polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Color RCV000219075 SCV000904810 likely pathogenic Hereditary cancer-predisposing syndrome 2018-06-20 criteria provided, single submitter clinical testing

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