ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) (rs75145370)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224617 SCV000281342 likely benign not provided 2016-02-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000224617 SCV000290103 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV000428816 SCV000534469 likely benign not specified 2018-01-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445384 SCV000536982 likely benign Monogenic diabetes 2016-02-19 criteria provided, single submitter research ACMG Criteria: BS2 (ExAC), BP4

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