ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) (rs147288996)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare 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).
Invitae RCV000541318 SCV000652295 benign Usher syndrome, type 3B 2019-12-31 criteria provided, single submitter clinical testing

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