ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1479C>T (p.Asp493=)

dbSNP: rs1366581698
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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 RCV001471114 SCV001675216 likely benign Usher syndrome type 3B 2018-06-14 criteria provided, single submitter clinical testing

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