ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.379G>C (p.Val127Leu) (rs138635817)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250871 SCV000309282 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375778 SCV000397655 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439131 SCV000511642 benign not provided 2016-08-19 criteria provided, single submitter clinical testing
GeneDx RCV000250871 SCV000522217 likely benign not specified 2017-10-02 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.
Athena Diagnostics Inc RCV000439131 SCV000843558 benign not provided 2018-07-31 criteria provided, single submitter clinical testing

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