ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4788C>T (p.Ile1596=) (rs746415437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227134 SCV000286106 likely benign not provided 2018-12-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271710 SCV000410514 likely benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563132 SCV000664053 likely benign Hereditary cancer-predisposing syndrome 2015-07-01 criteria provided, single submitter clinical testing

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