ClinVar Miner

Submissions for variant NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)

gnomAD frequency: 0.00001  dbSNP: rs121912642
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000007937 SCV001135475 likely benign Short stature-pituitary and cerebellar defects-small sella turcica syndrome 2019-05-28 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000007937 SCV001976932 likely pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome 2021-10-01 criteria provided, single submitter clinical testing PS3, PM2, PP3, PP4, PP5
OMIM RCV000007937 SCV000028142 pathogenic Short stature-pituitary and cerebellar defects-small sella turcica syndrome 2008-03-01 no assertion criteria provided literature only

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