ClinVar Miner

Submissions for variant NM_000823.4(GHRHR):c.1105-14C>G

gnomAD frequency: 0.00101  dbSNP: rs13223704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001160016 SCV001321779 uncertain significance Isolated growth hormone deficiency type IB 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002070976 SCV002359680 benign not provided 2023-12-17 criteria provided, single submitter clinical testing

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