ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.155A>C (p.Gln52Pro)

gnomAD frequency: 0.00001  dbSNP: rs201398055
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954564 SCV001101205 likely benign Usher syndrome type 3B 2024-01-13 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003328473 SCV004035184 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing

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