ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) (rs138921247)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427511 SCV000510939 likely benign not provided 2017-01-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000609728 SCV000718646 likely benign not specified 2017-11-27 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 RCV000476148 SCV000554313 benign Alstrom syndrome 2017-11-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000609728 SCV000967038 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val805Leu in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 2.39% (206/8616) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs138921247).

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