ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.*139dup

dbSNP: rs368061882
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366346 SCV000446368 uncertain significance Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000404010 SCV000484067 likely benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing

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