ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) (rs75145370)

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Total submissions: 6
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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 RCV001082987 SCV000290103 benign Alstrom syndrome 2020-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000224617 SCV000534469 benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445384 SCV000536982 benign Monogenic diabetes 2018-05-18 criteria provided, single submitter research ACMG criteria: BP4 (9 predictors), REVEL of 0.052, BS1 (1.93% in Ashkenazi Jewish and 1.33% in Africans), BS2 (5 homozygotes in African and European ExAC), BP1 (missense in gene with truncating cause disease), NOTE: in LD with rs58093963=benign
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001729469 SCV001977876 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224617 SCV001979814 likely benign not provided no assertion criteria provided clinical testing

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