ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.471G>A (p.Gln157=) (rs569206617)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232451 SCV000287842 benign Shprintzen-Goldberg syndrome 2016-03-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000247169 SCV000309364 likely benign not specified criteria provided, single submitter clinical testing

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