ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5496A>G (p.Arg1832=) (rs1572936704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825115 SCV000966370 likely benign not specified 2019-03-01 criteria provided, single submitter clinical testing The p.Arg1833Arg variant in ALMS1 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV001506505 SCV001711427 likely benign Alstrom syndrome 2020-05-30 criteria provided, single submitter clinical testing

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