ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.14C>A (p.Ala5Glu)

gnomAD frequency: 0.00588  dbSNP: rs78741041
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525701 SCV000652291 benign Usher syndrome type 3B 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001573133 SCV000723961 benign not provided 2018-06-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22930593)
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000525701 SCV000745441 benign Usher syndrome type 3B 2015-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001573133 SCV001473370 benign not provided 2023-09-11 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001573133 SCV002010491 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573133 SCV002586082 benign not provided 2024-05-01 criteria provided, single submitter clinical testing HARS1: BS1, BS2
Ambry Genetics RCV000606943 SCV002755065 likely benign not specified 2021-02-02 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573133 SCV001798529 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000606943 SCV001919773 benign not specified no assertion criteria provided clinical testing

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