ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1309+86TCAT[6]

dbSNP: rs58371019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000836330 SCV000978174 benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001421004 SCV001623467 benign Maturity-onset diabetes of the young type 3 2021-05-18 criteria provided, single submitter clinical testing
ITMI RCV000119856 SCV000083906 not provided not specified 2013-09-19 no assertion provided reference population

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