ClinVar Miner

Submissions for variant NM_003072.5(SMARCA4):c.1593+343G>A

gnomAD frequency: 0.00724  dbSNP: rs117788028
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002214089 SCV002498418 benign not provided 2023-06-01 criteria provided, single submitter clinical testing SMARCA4: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002214089 SCV005208261 likely benign not provided criteria provided, single submitter not provided

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