ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.249+24A>G

gnomAD frequency: 0.00278  dbSNP: rs77389132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552179 SCV001772826 likely benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000583543 SCV002761014 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001552179 SCV005208455 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000583543 SCV000692025 benign not specified no assertion criteria provided clinical testing

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