ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg)

gnomAD frequency: 0.00513  dbSNP: rs139447495
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079234 SCV000652287 benign Usher syndrome type 3B 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000844310 SCV000986360 benign not provided 2019-12-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22930593)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000844310 SCV002047871 benign not provided 2021-01-25 criteria provided, single submitter clinical testing

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