ClinVar Miner

Submissions for variant NM_000163.5(GHR):c.726G>C (p.Glu242Asp)

gnomAD frequency: 0.00006  dbSNP: rs45588036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000009170 SCV002526686 uncertain significance Short stature due to partial GHR deficiency 2022-05-17 criteria provided, single submitter clinical testing Criteria applied: PS4_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV002512935 SCV003525721 likely benign not provided 2024-10-16 criteria provided, single submitter clinical testing
OMIM RCV000009170 SCV000029387 pathogenic Short stature due to partial GHR deficiency 1995-10-26 no assertion criteria provided literature only

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