ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)

dbSNP: rs606231412
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Endocrinology Clinic, Seth G.S. Medical College RCV000148940 SCV000191978 likely pathogenic Isolated growth hormone deficiency type IB 2013-04-22 no assertion criteria provided case-control

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