ClinVar Miner

Submissions for variant NM_152424.4(AMER1):c.1796A>G (p.Tyr599Cys)

gnomAD frequency: 0.00043  dbSNP: rs144896730
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000916580 SCV001061824 benign not provided 2023-11-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262314 SCV001440133 likely benign Osteopathia striata with cranial sclerosis 2019-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000916580 SCV004165193 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing AMER1: BP4, BS2
ITMI RCV000119991 SCV000084121 not provided not specified 2013-09-19 no assertion provided reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000916580 SCV001742102 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000916580 SCV001797904 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000119991 SCV001969752 benign not specified no assertion criteria provided clinical testing

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