ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.397-11T>G

gnomAD frequency: 0.00007  dbSNP: rs763198737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002237473 SCV002507952 likely benign Usher syndrome type 3B 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV003235686 SCV003932978 uncertain significance not provided 2023-05-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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