ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.500+65G>A

gnomAD frequency: 0.00586  dbSNP: rs34545858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837359 SCV000979212 likely benign not provided 2018-06-19 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000837359 SCV002050051 benign not provided 2021-07-10 criteria provided, single submitter clinical testing
ITMI RCV000119890 SCV000084020 not provided not specified 2013-09-19 no assertion provided reference population

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