ClinVar Miner

Submissions for variant NM_003073.5(SMARCB1):c.500+234C>G

gnomAD frequency: 0.80402  dbSNP: rs738797
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711392 SCV001944057 benign not provided 2018-06-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
ITMI RCV000119894 SCV000084024 not provided not specified 2013-09-19 no assertion provided reference population

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