ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys)

gnomAD frequency: 0.00001  dbSNP: rs552434037
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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 RCV001476429 SCV001680637 likely benign Usher syndrome type 3B 2025-01-23 criteria provided, single submitter clinical testing

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