ClinVar Miner

Submissions for variant NM_001102401.4(TTI2):c.118C>T (p.Pro40Ser)

gnomAD frequency: 0.00517  dbSNP: rs78781527
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503368 SCV000597626 benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971284 SCV001118921 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971284 SCV002063183 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing TTI2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000971284 SCV005223377 likely benign not provided criteria provided, single submitter not provided

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