ClinVar Miner

Submissions for variant NM_004085.4(TIMM8A):c.251C>T (p.Thr84Ile)

gnomAD frequency: 0.00003  dbSNP: rs201897402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001592613 SCV001823110 likely benign not provided 2020-04-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001592613 SCV002409625 benign not provided 2024-03-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001592613 SCV005093238 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TIMM8A: PP2, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV001592613 SCV005411465 uncertain significance not provided 2024-03-14 criteria provided, single submitter clinical testing BS2

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