ClinVar Miner

Submissions for variant NM_000515.4(GH1):c.-68A>G

dbSNP: rs6171
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399451 SCV000483655 likely benign Isolated congenital growth hormone deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001595004 SCV001829942 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 12655556)
Breakthrough Genomics, Breakthrough Genomics RCV001595004 SCV005211214 likely benign not provided criteria provided, single submitter not provided

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