ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.*2968del

gnomAD frequency: 0.00280  dbSNP: rs574286440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000384711 SCV000409228 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290328 SCV000409229 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340534 SCV000409230 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221920 SCV003918014 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing SMAD4: BS2

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