ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) (rs752910574)

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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 RCV000572980 SCV000675226 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV000269507 SCV000437521 uncertain significance Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308154 SCV000437522 uncertain significance Schwannomatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365158 SCV000437523 uncertain significance Rhabdoid tumor 2016-06-14 criteria provided, single submitter clinical testing

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