ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11466G>A (p.Glu3822=) (rs750087396)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732160 SCV000860072 uncertain significance not provided 2018-03-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825705 SCV000967153 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Glu3820Glu in exon 16 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.13% (15/11466) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs750087396).
Invitae RCV001085207 SCV001014684 likely benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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