ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)

gnomAD frequency: 0.00037  dbSNP: rs189914793
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727078 SCV000705444 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000727078 SCV000727274 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088498 SCV001006384 likely benign Alstrom syndrome 2024-12-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000592923 SCV001339090 likely benign not specified 2020-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456303 SCV002614423 likely benign Cardiovascular phenotype 2019-06-12 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.
Natera, Inc. RCV001088498 SCV002080482 likely benign Alstrom syndrome 2021-01-06 no assertion criteria provided clinical testing

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