ClinVar Miner

Submissions for variant NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) (rs767004810)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224858 SCV000280889 pathogenic not provided 2014-12-18 criteria provided, single submitter clinical testing
Centre for Translational Omics - GOSgene,University College London RCV000005608 SCV000778576 likely pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome 2018-03-16 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000005608 SCV000891681 pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome 2017-12-30 criteria provided, single submitter clinical testing
Pathology and Clinical Laboratory Medicine,King Fahad Medical City RCV000005608 SCV000996294 pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome criteria provided, single submitter clinical testing
OMIM RCV000005608 SCV000025790 pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome 2002-11-01 no assertion criteria provided literature only
OMIM RCV000191990 SCV000246253 pathogenic Autosomal recessive Kenny-Caffey syndrome 2002-11-01 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000005608 SCV001190740 pathogenic Hypoparathyroidism-retardation-dysmorphism syndrome 2020-02-05 no assertion criteria provided clinical testing

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