ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.903C>T (p.Asp301=)

gnomAD frequency: 0.00034  dbSNP: rs146835587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876280 SCV001018836 benign Usher syndrome type 3B 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001539863 SCV001757683 likely benign not provided 2020-06-30 criteria provided, single submitter clinical testing

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