ClinVar Miner

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

gnomAD frequency: 0.02787  dbSNP: rs73609956
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336116 SCV000397872 likely benign Lethal polymalformative syndrome, Boissel type 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274776 SCV000483538 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318257 SCV000483539 likely benign Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375411 SCV000483540 likely benign Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002056499 SCV002432895 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002056499 SCV005216453 likely benign not provided criteria provided, single submitter not provided

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