ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) (rs137932254)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710534 SCV000840774 benign not provided 2018-08-10 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000710534 SCV000332367 uncertain significance not provided 2015-06-18 criteria provided, single submitter clinical testing
GeneDx RCV000276445 SCV000534306 likely benign not specified 2018-01-05 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 RCV000232823 SCV000290106 likely benign Alstrom syndrome 2017-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000276445 SCV000967149 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ser2814Ser in exon 10 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 0.25% (167/66098 ) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs137932254).

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