ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.*470A>G (rs778272737)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302380 SCV000373067 uncertain significance Hyperparathyroidism 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359433 SCV000373068 uncertain significance Multiple endocrine neoplasia 2016-06-14 criteria provided, single submitter clinical testing
Aziz Sancar Institute of Experimental Medicine,Istanbul University RCV000736006 SCV000611859 likely pathogenic Somatotroph adenoma 2017-12-05 criteria provided, single submitter research Depicted in ClinVar through clinical testing as uncertain clinical significance. Detected in our cohort of FIPA patients, associated with clinical findings.

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