ClinVar Miner

Submissions for variant NC_000021.9:g.26171301C>T

gnomAD frequency: 0.00096  dbSNP: rs187510057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001446095 SCV001649137 likely benign Alzheimer disease 2022-07-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992522 SCV004811218 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing APP: BS1
PreventionGenetics, part of Exact Sciences RCV003908663 SCV004719893 likely benign APP-related disorder 2019-06-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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