ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.6116A>T (p.Glu2039Val) (rs876659558)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sanfordhealth-Fargo,Sanfordhealth RCV000464903 SCV000537889 uncertain significance Familial cancer of breast no assertion criteria provided clinical testing This VUS was reported by GeneDx 5/22/2015. VUS present in woman (pt A4 my pedigree) who had breast ca age 29 yrs. VUS also present in her mother who had breast ca age 51 years. Patient A4 has a maternal first cousin A7 who had colon cancer age 22 years and testicular cancer 22 years. Another individual C5 in maternal family had pancreatic cancer age 72 years.

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