ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg)

gnomAD frequency: 0.00002  dbSNP: rs530918606
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001105680 SCV001262676 benign Autosomal dominant nonsyndromic hearing loss 12 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001105681 SCV001262677 uncertain significance Autosomal recessive nonsyndromic hearing loss 21 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV002069739 SCV002360378 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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