ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.10467A>G (p.Val3489=) (rs28730858)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226104 SCV000290061 benign Alstrom syndrome 2017-09-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000594767 SCV000707354 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000594767 SCV000711803 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val3487Val in exon 16 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 0.88% (86/9770) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs28730858).
GeneDx RCV000594767 SCV000714603 likely benign not specified 2018-03-12 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.

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