ClinVar Miner

Submissions for variant NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) (rs138689221)

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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 RCV000563484 SCV000663901 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761135 SCV000891051 uncertain significance Craniopharyngioma 2017-02-15 no assertion criteria provided clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267497 SCV000410454 likely benign Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000204451 SCV000261340 likely benign Rhabdoid tumor predisposition syndrome 2 2017-12-21 criteria provided, single submitter clinical testing

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