ClinVar Miner

Submissions for variant NM_003244.4(TGIF1):c.16+1632C>T

gnomAD frequency: 0.01187  dbSNP: rs114378990
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001587744 SCV001817384 likely benign not provided 2018-08-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003617932 SCV004562980 benign Holoprosencephaly 4 2023-11-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001587744 SCV005217068 likely benign not provided criteria provided, single submitter not provided

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