ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10338C>T (p.Pro3446=) (rs78108069)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206343 SCV000262080 benign Alstrom syndrome 2018-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000423211 SCV000967042 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Pro3444Pro in exon 15 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 5.88% (572/9730) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs78108069).
GeneDx RCV000423211 SCV000529350 benign not specified 2016-10-11 no assertion criteria provided 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.

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