ClinVar Miner

Submissions for variant NM_003193.5(TBCE):c.1270+4del

gnomAD frequency: 0.00001  dbSNP: rs774067348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000353814 SCV000355653 uncertain significance Hypoparathyroidism-retardation-dysmorphism syndrome 2016-06-14 criteria provided, single submitter clinical testing

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