ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.558C>T (p.Thr186=) (rs142893042)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680321 SCV000516202 benign not provided 2016-12-09 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.
Genetic Services Laboratory, University of Chicago RCV000438762 SCV000593025 likely benign not specified 2016-04-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000438762 SCV000710978 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr186Thr in Exon 04 of ACTG1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.9% (71/3736) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142893042).
Invitae RCV001078888 SCV001015745 benign Deafness, autosomal dominant 20; Baraitser-Winter Syndrome 2 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000680321 SCV001142903 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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