ClinVar Miner

Submissions for variant NM_194454.3(KRIT1):c.846-5dup

gnomAD frequency: 0.00219  dbSNP: rs373763254
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316426 SCV000470446 likely benign Cerebral cavernous malformation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000357228 SCV000470447 likely benign Angiokeratoma corporis diffusum with arteriovenous fistulas 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549822 SCV000853056 likely benign KRIT1-related disorder 2020-07-27 criteria provided, single submitter 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).
Invitae RCV000316426 SCV002405334 benign Cerebral cavernous malformation 2023-10-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000721904 SCV004699142 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing ENSG00000285953: BS2; ENSG00000289027: BS2

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