ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.954C>T (p.Ile318=)

dbSNP: rs1758406223
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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 RCV002237445 SCV002507936 likely benign Usher syndrome type 3B 2020-12-17 criteria provided, single submitter clinical testing

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