ClinVar Miner

Submissions for variant NM_001127217.3(SMAD9):c.756T>C (p.His252=)

gnomAD frequency: 0.00368  dbSNP: rs146836873
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220652 SCV000269838 benign not specified 2015-12-09 criteria provided, single submitter clinical testing p.His252His in exon 4 of SMAD9: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.6% (49/8748) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs146836873).
GeneDx RCV001722153 SCV000515510 benign not provided 2020-01-20 criteria provided, single submitter clinical testing
Invitae RCV001001697 SCV000655011 benign Pulmonary hypertension, primary, 2 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001697 SCV001159269 benign Pulmonary hypertension, primary, 2 2023-09-18 criteria provided, single submitter clinical testing

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