ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.-38A>C

gnomAD frequency: 0.02189  dbSNP: rs6172
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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 RCV001126655 SCV001285877 benign Decreased response to growth hormone stimulation test 2018-01-18 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV002269339 SCV002552647 likely benign not provided 2021-06-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics RCV002269339 SCV005253514 benign not provided criteria provided, single submitter not provided

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