ClinVar Miner

Submissions for variant NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) (rs200970763)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001000047 SCV000884303 uncertain significance none provided 2019-09-24 criteria provided, single submitter clinical testing
Invitae RCV000756474 SCV001108108 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989648 SCV001140179 uncertain significance Lymphedema, hereditary, III 2019-05-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000756474 SCV001712881 uncertain significance not provided 2021-03-23 criteria provided, single submitter clinical testing

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