ClinVar Miner

Submissions for variant NM_000306.4(POU1F1):c.40C>G (p.Pro14Ala)

gnomAD frequency: 0.00010  dbSNP: rs200873915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001766570 SCV001990700 uncertain significance not provided 2019-04-05 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
GenomeConnect, ClinGen RCV000709889 SCV000840230 not provided Pituitary hormone deficiency, combined, 1 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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