ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.6183-11del

gnomAD frequency: 0.23567  dbSNP: rs143514947
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253801 SCV000316017 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000382804 SCV000408704 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001636829 SCV001848396 benign not provided 2018-06-24 criteria provided, single submitter clinical testing
Invitae RCV001636829 SCV002441793 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828162 SCV002095248 benign Autosomal recessive nonsyndromic hearing loss 77 2019-09-27 no assertion criteria provided clinical testing

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