ClinVar Miner

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

gnomAD frequency: 0.00375  dbSNP: rs34790864
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650156 SCV000771993 benign Usher syndrome type 3B 2025-01-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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.
GeneDx RCV001592815 SCV001823938 likely benign not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001592815 SCV004700839 benign not provided 2023-12-01 criteria provided, single submitter clinical testing HARS1: BS1, BS2

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