ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1406C>T (p.Ala469Val)

gnomAD frequency: 0.00004  dbSNP: rs746659856
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638882 SCV000760436 likely benign Shprintzen-Goldberg syndrome 2022-09-07 criteria provided, single submitter clinical testing
GeneDx RCV001556997 SCV001778683 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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