ClinVar Miner

Submissions for variant NM_001080432.3(FTO):c.18T>C (p.Thr6=) (rs73609956)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000336116 SCV000397872 likely benign Growth retardation, developmental delay, coarse facies, and early death 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274776 SCV000483538 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318257 SCV000483539 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375411 SCV000483540 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing

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