ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1527C>T (p.Ser509=) (rs111935632)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755634 SCV000605117 benign not provided 2017-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000245139 SCV000319439 likely benign Cardiovascular phenotype 2015-02-24 criteria provided, single submitter clinical testing
GeneDx RCV000199331 SCV000250657 benign not specified 2014-09-11 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.
Invitae RCV000550404 SCV000637282 benign Shprintzen-Goldberg syndrome 2017-04-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000199331 SCV000269828 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser509Ser in exon 5 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 0.9% (38/4110) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs111935632).

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