ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.252C>T (p.His84=)

gnomAD frequency: 0.00098  dbSNP: rs4988460
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734262 SCV000862386 uncertain significance not provided 2018-07-25 criteria provided, single submitter clinical testing
Invitae RCV000734262 SCV001061023 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001148588 SCV001309494 uncertain significance Pituitary hormone deficiency, combined, 1 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 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.

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