ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) (rs149185431)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147679 SCV000195130 uncertain significance Primary autosomal recessive microcephaly 7 2012-12-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174071 SCV000225307 benign not specified 2016-11-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000147679 SCV000611524 uncertain significance Primary autosomal recessive microcephaly 7 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000887897 SCV001031488 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000147679 SCV001254501 uncertain significance Primary autosomal recessive microcephaly 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Athena Diagnostics Inc RCV000887897 SCV001474801 likely benign not provided 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000887897 SCV001831895 likely benign not provided 2021-01-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26548919, 23772360)

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