ClinVar Miner

Submissions for variant NM_019112.3(ABCA7):c.3641G>A (p.Trp1214Ter) (rs201060968)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239042 SCV000297291 uncertain significance not specified 2015-09-30 criteria provided, single submitter clinical testing
Invitae RCV000918717 SCV001064036 likely benign not provided 2018-05-08 criteria provided, single submitter clinical testing
OMIM RCV000210928 SCV000267595 risk factor Alzheimer disease, type 9 2016-04-25 no assertion criteria provided literature only

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