ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.614G>A (p.Gly205Asp)

gnomAD frequency: 0.00272  dbSNP: rs147288996
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217228 SCV000269142 benign not specified 2016-03-17 criteria provided, single submitter clinical testing p.Gly205Asp in exon 6 of HARS: This variant is not expected to have clinical sig nificance because it has been identified in 1.7% (115/6610) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs147288996).
Labcorp Genetics (formerly Invitae), Labcorp RCV000541318 SCV000652295 benign Usher syndrome type 3B 2025-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001636728 SCV001471505 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV001636728 SCV001851242 benign not provided 2018-09-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22930593, 26264438)
CeGaT Center for Human Genetics Tuebingen RCV001636728 SCV002586081 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing HARS1: BS2

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