ClinVar Miner

Submissions for variant NM_002109.6(HARS1):c.40C>A (p.Gln14Lys)

gnomAD frequency: 0.00034  dbSNP: rs117579809
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874252 SCV001016395 benign Usher syndrome type 3B 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001615072 SCV001834610 benign not provided 2019-12-17 criteria provided, single submitter clinical testing

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