ClinVar Miner

Submissions for variant NM_000453.3(SLC5A5):c.-54C>T

gnomAD frequency: 0.01822  dbSNP: rs112077649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990185 SCV001141035 benign Familial thyroid dyshormonogenesis 1 2023-08-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000990185 SCV001282826 likely benign Familial thyroid dyshormonogenesis 1 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001683710 SCV001897192 benign not provided 2021-02-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21565787)

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