ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.1277C>G (p.Ala426Gly)

dbSNP: rs61758082
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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 RCV000948588 SCV001094803 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001131231 SCV001290845 likely benign Deficiency of iodide peroxidase 2017-04-28 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.
Breakthrough Genomics, Breakthrough Genomics RCV000948588 SCV005260529 likely benign not provided criteria provided, single submitter not provided

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