ClinVar Miner

Submissions for variant NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro) (rs747431002)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669625 SCV000794397 uncertain significance Pendred syndrome 2017-09-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000669625 SCV001323032 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001004635 SCV001323033 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.
Nilou-Genome Lab RCV001004635 SCV001806725 uncertain significance Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000669625 SCV001806726 uncertain significance Pendred syndrome 2021-07-22 criteria provided, single submitter clinical testing
National Institute of Sensory Organs,National Hospital Organization Tokyo Medical Center RCV001004635 SCV000994883 affects Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 2019-08-20 no assertion criteria provided literature only in vitro experiment

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