ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.-124G>C

dbSNP: rs563304627
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776405 SCV002012937 uncertain significance not provided 2024-05-23 criteria provided, single submitter clinical testing Published functional studies have been reported in published literature, however, the biological significance of the results are unclear (PMID: 10333057); This variant is associated with the following publications: (PMID: 25910213, 23348805, 11463573, 29625052, 36451132, 10333057)
Mendelics RCV002246483 SCV002516219 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001776405 SCV003462774 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing

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