ClinVar Miner

Submissions for variant NM_175914.5(HNF4A):c.1064-18G>A

gnomAD frequency: 0.00003  dbSNP: rs773235761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001665487 SCV001880025 likely benign not specified 2021-03-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495993 SCV002801644 likely benign Maturity-onset diabetes of the young type 1; Type 2 diabetes mellitus; Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 2021-10-28 criteria provided, single submitter clinical testing

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