ClinVar Miner

Submissions for variant NM_002968.2(SALL1):c.2178G>A (p.Arg726=) (rs144019351)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248259 SCV000309273 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000275251 SCV000397633 likely benign Townes-Brocks syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248259 SCV000729839 benign not specified 2017-06-09 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.
Athena Diagnostics Inc RCV000992804 SCV001145356 benign not provided 2019-07-10 criteria provided, single submitter clinical testing

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