ClinVar Miner

Submissions for variant NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala)

dbSNP: rs2032151816
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002286831 SCV002576901 uncertain significance not provided 2022-03-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001280496 SCV001467680 uncertain significance Autosomal recessive nonsyndromic hearing loss 77 2020-09-04 no assertion criteria provided clinical testing

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