ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9782-9C>T (rs10199680)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440876 SCV000529349 benign not specified 2016-10-10 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.
Invitae RCV000462617 SCV000554317 benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000440876 SCV000711863 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.9779-9C>T in intron 11 of ALMS1: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the sp lice consensus sequence and is therefore unlikely to impact splicing. It has bee n identified in 12.00% (1176/9796) of African chromosomes by the Exome Aggregati on Consortium (ExAC,; dbSNP rs10199680).
Athena Diagnostics Inc RCV000710535 SCV000840775 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000462617 SCV001453037 benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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