ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.4531-19C>T

gnomAD frequency: 0.02599  dbSNP: rs117403100
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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 RCV000253037 SCV000316011 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000842918 SCV000984949 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001542945 SCV001761365 benign Autosomal recessive nonsyndromic hearing loss 77 2021-07-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000842918 SCV002428928 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000842918 SCV005215379 likely benign not provided criteria provided, single submitter not provided

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