ClinVar Miner

Submissions for variant NM_001953.5(TYMP):c.1301-9G>A

gnomAD frequency: 0.00004  dbSNP: rs548524392
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941563 SCV001087453 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272320 SCV001454195 likely benign Mitochondrial neurogastrointestinal encephalomyopathy 2019-12-30 no assertion criteria provided clinical testing

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