ClinVar Miner

Submissions for variant NM_005585.5(SMAD6):c.817+9G>C

gnomAD frequency: 0.00239  dbSNP: rs200726236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000228155 SCV000288926 benign Aortic valve disease 2 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003937907 SCV004747756 benign SMAD6-related disorder 2024-08-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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