ClinVar Miner

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

dbSNP: rs752910574
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000269507 SCV000437521 uncertain significance Coffin-Siris syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308154 SCV000437522 uncertain significance Schwannomatosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000365158 SCV000437523 uncertain significance Rhabdoid tumor predisposition syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572980 SCV000675226 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001417685 SCV001619890 likely benign not provided 2023-12-10 criteria provided, single submitter clinical testing

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