ClinVar Miner

Submissions for variant NM_001127217.3(SMAD9):c.1004-8G>A

gnomAD frequency: 0.00131  dbSNP: rs146507864
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 RCV002144034 SCV002463029 benign Pulmonary hypertension, primary, 2 2024-11-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002144034 SCV002806628 likely benign Pulmonary hypertension, primary, 2 2021-09-07 criteria provided, single submitter clinical testing

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