ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) (rs34790864)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650156 SCV000771993 benign Usher syndrome, type 3B 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825071 SCV000966303 benign not specified 2019-01-03 criteria provided, single submitter clinical testing The p.Leu421Val variant in HARS is classified as benign because it has been iden tified in 1.2% (307/24962) of African chromosomes by gnomAD (http://gnomad.broad institute.org). ACMG/AMP criteria applied: BA1.

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