ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly) (rs2037814)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000610347 SCV000711929 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val671Gly in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 94.88% (10945/11536) of Latino chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs2037814).
GeneDx RCV000610347 SCV000724554 benign not specified 2017-11-03 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 RCV000860047 SCV000999962 benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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