ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.875-22C>A

gnomAD frequency: 0.23475  dbSNP: rs2278604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001683849 SCV001897736 benign not provided 2018-09-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001810229 SCV002057762 benign Aortic valve disease 2 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683849 SCV005293023 benign not provided criteria provided, single submitter not provided

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