ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11873-12T>C

gnomAD frequency: 0.51648  dbSNP: rs1320374
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437913 SCV000524288 benign not specified 2016-09-09 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000437913 SCV000711902 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.11870-12T>C in intron 18 of ALMS1: This variant is not expected to have clinic al significance because a T>C change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. It has b een identified in 75.28% (6509/8646) of East Asian chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1320374).
Labcorp Genetics (formerly Invitae), Labcorp RCV001520269 SCV001729330 benign Alstrom syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001520269 SCV001769209 benign Alstrom syndrome 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710024 SCV005240754 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000437913 SCV001918274 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000437913 SCV001927555 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000437913 SCV001958497 benign not specified no assertion criteria provided clinical testing

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