ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) (rs750362630)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665364 SCV000789475 uncertain significance Alstrom syndrome 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000665364 SCV001010355 likely benign Alstrom syndrome 2020-10-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195320 SCV001365659 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Pro700Pro in exon 8 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 0.07% (6/8626) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs750362630).
GeneDx RCV001731859 SCV001982036 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665364 SCV001453443 likely benign Alstrom syndrome 2019-10-28 no assertion criteria provided clinical testing

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