ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)

gnomAD frequency: 0.00114  dbSNP: rs45445398
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403846 SCV000336148 likely benign not specified 2017-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001705415 SCV000533899 likely benign not provided 2021-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17594715)
Invitae RCV000473634 SCV000554307 likely benign Alstrom syndrome 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000403846 SCV001983643 likely benign not specified 2021-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418110 SCV002729871 likely benign Cardiovascular phenotype 2019-01-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV000473634 SCV002808363 likely benign Alstrom syndrome 2021-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001705415 SCV004155007 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ALMS1: BP4, BP7
Natera, Inc. RCV000473634 SCV001453046 likely benign Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000403846 SCV001923858 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001705415 SCV001970345 likely benign not provided no assertion criteria provided clinical testing

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