ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) (rs143002265)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036514 SCV000060169 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Asn322Asp in Exon 08 of SLC26A4: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (18/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs143002265).
Counsyl RCV000674464 SCV000799804 uncertain significance Pendred syndrome 2018-05-07 criteria provided, single submitter clinical testing
Invitae RCV000956518 SCV001103284 likely benign not provided 2020-12-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001164699 SCV001326840 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV000674464 SCV001326841 uncertain significance Pendred syndrome 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV000956518 SCV001768093 likely benign not provided 2020-10-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30245029, 27771369, 21704276, 18368581, 25262649, 17309986, 23401162)
Natera, Inc. RCV000674464 SCV001459863 uncertain significance Pendred syndrome 2020-01-07 no assertion criteria provided clinical testing

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