ClinVar Miner

Submissions for variant NM_178138.6(LHX3):c.94G>A (p.Ala32Thr)

gnomAD frequency: 0.00006  dbSNP: rs201187873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548466 SCV001768382 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Natera, Inc. RCV001827456 SCV002085120 uncertain significance Non-acquired combined pituitary hormone deficiency with spine abnormalities 2020-04-13 no assertion criteria provided clinical testing

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