ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) (rs370844317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471195 SCV000554298 likely benign Alstrom syndrome 2020-11-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000605939 SCV000731919 likely benign not specified 2017-12-21 criteria provided, single submitter clinical testing p.Ser3246Ser in exon 11 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.03% (38/126628 ) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gno; dbSNP rs370844317). ACMG/AMP criteria applied: BP7.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000605939 SCV001572447 likely benign not specified 2021-04-03 criteria provided, single submitter clinical testing

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