ClinVar Miner

Submissions for variant NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)

dbSNP: rs547447016
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762228 SCV000892509 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000762228 SCV001052852 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001090097 SCV001245561 risk factor Primary degenerative dementia of the Alzheimer type, presenile onset 2019-10-28 criteria provided, single submitter research
OMIM RCV000210926 SCV000267594 risk factor Alzheimer disease 9 2016-04-25 no assertion criteria provided literature only

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