ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.4608C>T (p.Pro1536=) (rs145435121)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567569 SCV000663939 likely benign Hereditary cancer-predisposing syndrome 2015-06-29 criteria provided, single submitter clinical testing
GeneDx RCV000421048 SCV000530896 likely benign not specified 2018-01-24 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.
Illumina Clinical Services Laboratory,Illumina RCV000276173 SCV000410511 likely benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000226216 SCV000286100 likely benign Rhabdoid tumor predisposition syndrome 2 2017-12-27 criteria provided, single submitter clinical testing

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