ClinVar Miner

Submissions for variant NM_176801.2(ADD1):c.1378G>T (p.Gly460Trp) (rs4961)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211330 SCV000268361 drug response furosemide and spironolactone response - Efficacy 2015-10-14 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
OMIM RCV000019936 SCV000040234 risk factor Hypertension, salt-sensitive essential, susceptibility to 1999-02-01 no assertion criteria provided literature only

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