ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)

gnomAD frequency: 0.00001  dbSNP: rs200848306
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992197 SCV004809771 likely pathogenic Isolated growth hormone deficiency, type 4 2024-04-04 criteria provided, single submitter clinical testing
Endocrinology Clinic, Seth G.S. Medical College RCV000148941 SCV000191979 likely pathogenic Isolated growth hormone deficiency type IB 2013-04-22 no assertion criteria provided case-control

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