ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2973G>T (p.Lys991Asn)

dbSNP: rs1444578140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001172512 SCV001335565 likely benign Monogenic diabetes 2017-07-14 criteria provided, single submitter research ACMG criteria: BP4 (8 predictors), PM2 (absent in database), BP1 (missense in gene where truncating is causative)=likely benign

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