ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu)

gnomAD frequency: 0.04416  dbSNP: rs2229333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250978 SCV000309528 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331659 SCV000408563 likely benign Holoprosencephaly sequence 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999804 SCV000605381 benign Holoprosencephaly 4 2023-11-22 criteria provided, single submitter clinical testing
Invitae RCV000999804 SCV001720799 benign Holoprosencephaly 4 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001541194 SCV001759163 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24215395)

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