ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.5400-7C>G

gnomAD frequency: 0.00006  dbSNP: rs376131738
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213523 SCV000271952 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing The c.5214-7C>G variant in LOXHD1 has not been previously reported in individual s with hearing loss. Data from large population studies is insufficient to asses s the frequency of this variant. Computational tools suggest an impact to splici ng; however, this information is not predictive enough to determine pathogenicit y. In summary, the clinical significance of the c.5214-7C>G variant is uncertain .
Natera, Inc. RCV001835731 SCV002095265 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2020-08-30 no assertion criteria provided clinical testing

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