ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.11748C>T (p.Ser3916=) (rs147831309)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425339 SCV000534523 likely benign not specified 2017-08-28 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.
Genetic Services Laboratory,University of Chicago RCV000425339 SCV000593117 likely benign not specified 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000537030 SCV000631759 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000425339 SCV000705097 benign not specified 2017-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000425339 SCV000967154 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser3914Ser in exon 18 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 0.37% (61/16494) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs147831309).

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