ClinVar Miner

Submissions for variant NM_003466.4(PAX8):c.404A>G (p.Lys135Arg)

gnomAD frequency: 0.00146  dbSNP: rs190431939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872892 SCV001014783 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130012 SCV001289571 likely benign Hypothyroidism, congenital, nongoitrous, 2 2017-09-21 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000872892 SCV004149060 benign not provided 2023-12-01 criteria provided, single submitter clinical testing PAX8: BS1, BS2

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