ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.5466G>A (p.Pro1822=) (rs62151609)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180332 SCV000232744 benign not specified 2014-11-19 criteria provided, single submitter clinical testing
Invitae RCV001079928 SCV000290094 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000180332 SCV000528958 benign not specified 2017-11-20 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.
Athena Diagnostics Inc RCV000231099 SCV001143003 benign not provided 2019-03-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000180332 SCV001363238 benign not specified 2019-08-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000180332 SCV001365610 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro1820Pro in exon 8 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 2.93% (194/6614) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs62151609).

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