ClinVar Miner

Submissions for variant NM_001146079.2(CLDN14):c.18G>A (p.Val6=)

gnomAD frequency: 0.00001  dbSNP: rs387907417
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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 RCV001143200 SCV001303706 uncertain significance Autosomal recessive nonsyndromic hearing loss 29 2017-04-27 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 RCV000054674 SCV003524211 likely benign not provided 2022-02-24 criteria provided, single submitter clinical testing
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054674 SCV000077364 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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