ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1834C>T (p.Leu612=)

gnomAD frequency: 0.00418  dbSNP: rs35833638
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179418 SCV000171641 benign not specified 2014-05-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000179418 SCV000231664 benign not specified 2015-06-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000179418 SCV000269829 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu612Leu in exon 6 of SKI: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (54/8578) of Euro pean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35833638).
Invitae RCV000230962 SCV000287836 benign Shprintzen-Goldberg syndrome 2024-02-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000179418 SCV000309356 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002310710 SCV000319390 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000230962 SCV001472783 benign Shprintzen-Goldberg syndrome 2023-11-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001530976 SCV001745897 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing SKI: BP4, BP7, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000179418 SCV004029473 benign not specified 2023-07-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000179418 SCV001806870 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001530976 SCV001965412 likely benign not provided no assertion criteria provided clinical testing

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