ClinVar Miner

Submissions for variant NM_030962.4(SBF2):c.1396-87G>A

gnomAD frequency: 0.01271  dbSNP: rs114180283
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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 RCV001583198 SCV001810822 likely benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001583198 SCV005221308 likely benign not provided criteria provided, single submitter not provided

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