ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1340C>T (p.Thr447Met)

gnomAD frequency: 0.00142  dbSNP: rs138897239
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 RCV000951640 SCV001098055 benign Joubert syndrome 25 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001546921 SCV001766525 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing

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