ClinVar Miner

Submissions for variant NM_003079.5(SMARCE1):c.1028-18A>G

gnomAD frequency: 0.00048  dbSNP: rs202149619
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002118155 SCV002405472 benign Familial meningioma 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710418 SCV005247532 benign not provided criteria provided, single submitter not provided

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