ClinVar Miner

Submissions for variant NM_178138.6(LHX3):c.281A>T (p.Gln94Leu)

gnomAD frequency: 0.00008  dbSNP: rs758634719
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000583731 SCV000692128 uncertain significance Pituitary hormone deficiency, combined, 1 2012-09-14 no assertion criteria provided clinical testing

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