ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.42C>T (p.His14=) (rs543603037)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757764 SCV000886110 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000757764 SCV001014546 likely benign not provided 2018-06-06 criteria provided, single submitter clinical testing

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