ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.257T>G (p.Phe86Cys)

dbSNP: rs1594998354
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000853575 SCV000996541 likely pathogenic Alzheimer disease 3 2019-06-03 criteria provided, single submitter clinical testing

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