ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.666-6C>T

gnomAD frequency: 0.00019  dbSNP: rs201995103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338684 SCV000446376 uncertain significance Combined Pituitary Hormone Deficiency, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000395594 SCV000484073 likely benign Frontotemporal dementia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000898539 SCV001042751 benign not provided 2024-01-28 criteria provided, single submitter clinical testing

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