ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1086C>T (p.Arg362=)

gnomAD frequency: 0.00003  dbSNP: rs139251223
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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 RCV001500774 SCV001705573 likely benign Usher syndrome type 3B 2023-12-06 criteria provided, single submitter clinical testing

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