ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.2018GTT[1] (p.Cys674del)

dbSNP: rs587784448
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147684 SCV000195135 uncertain significance Microcephaly 7, primary, autosomal recessive 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850005 SCV002259949 uncertain significance not provided 2021-06-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with STIL-related conditions. ClinVar contains an entry for this variant (Variation ID: 160054). This variant is not present in population databases (ExAC no frequency). This variant, c.2021_2023del, results in the deletion of 1 amino acid(s) of the STIL protein (p.Cys674del), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV000147684 SCV002790608 uncertain significance Microcephaly 7, primary, autosomal recessive 2022-01-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000147684 SCV003818106 uncertain significance Microcephaly 7, primary, autosomal recessive 2020-09-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001850005 SCV005186695 uncertain significance not provided criteria provided, single submitter not provided

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