ClinVar Miner

Submissions for variant NM_006058.5(TNIP1):c.437C>T (p.Ala146Val)

gnomAD frequency: 0.00813  dbSNP: rs2233289
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UM ALS/MND Lab, University Of Malta RCV001260219 SCV001437188 uncertain significance Amyotrophic lateral sclerosis 2020-09-09 criteria provided, single submitter case-control
Breakthrough Genomics, Breakthrough Genomics RCV004692364 SCV005188700 uncertain significance not provided criteria provided, single submitter not provided
CeGaT Center for Human Genetics Tuebingen RCV004692364 SCV005434358 benign not provided 2024-11-01 criteria provided, single submitter clinical testing TNIP1: BP4, BS1, BS2

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