ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.91-17C>A

gnomAD frequency: 0.00007  dbSNP: rs373242229
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002238019 SCV002508081 likely benign Usher syndrome type 3B 2024-12-12 criteria provided, single submitter clinical testing

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