ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) (rs147372931)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086767 SCV000652290 benign Usher syndrome, type 3B 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000835736 SCV000977548 likely benign not provided 2018-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Blueprint Genetics RCV001073307 SCV001238845 uncertain significance Retinal dystrophy 2018-11-08 criteria provided, single submitter clinical testing

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