ClinVar Miner

Submissions for variant NM_000515.5(GH1):c.-63A>C

dbSNP: rs695
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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 RCV000343147 SCV000483654 likely benign Isolated congenital growth hormone deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001528037 SCV001739198 benign not provided 2021-06-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001528037 SCV005211212 likely benign not provided criteria provided, single submitter not provided

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