ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.1069C>T (p.Arg357Cys)

gnomAD frequency: 0.00001  dbSNP: rs376948691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783363 SCV002024245 pathogenic Isolated growth hormone deficiency, type 4 2020-10-06 criteria provided, single submitter clinical testing

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