ClinVar Miner

Submissions for variant NM_016038.4(SBDS):c.201A>G (p.Lys67=)

gnomAD frequency: 0.08712  dbSNP: rs1061695
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249931 SCV000312605 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000249931 SCV000605054 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001650838 SCV001864590 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000020727 SCV002033093 benign Shwachman-Diamond syndrome 1 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415423 SCV002718479 benign Inborn genetic diseases 2017-09-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000020727 SCV004015366 benign Shwachman-Diamond syndrome 1 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001650838 SCV005272831 benign not provided criteria provided, single submitter not provided
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000249931 SCV001956581 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000249931 SCV001974000 benign not specified no assertion criteria provided clinical testing

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