ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1158G>T (p.Val386=)

dbSNP: rs2149822667
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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 RCV002237437 SCV002508058 likely benign Usher syndrome type 3B 2021-06-28 criteria provided, single submitter clinical testing

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