ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8658A>G (p.Arg2886=) (rs377249623)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825110 SCV000966365 likely benign not specified 2018-07-18 criteria provided, single submitter clinical testing p.Arg2886Arg in exon 10 of ALMS1: This variant is classified as likely benign be cause it does not alter an amino acid residue, it is not located within the spli ce consensus sequence, and splice prediction algorithms do not predict a newly c reated splice site. ACMG/AMP Criteria applied: BP4, BP7, PM2.

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