ClinVar Miner

Submissions for variant NM_014704.4(CEP104):c.1308A>T (p.Gly436=)

gnomAD frequency: 0.00305  dbSNP: rs148455387
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 RCV000550647 SCV000655673 benign Joubert syndrome 25 2024-01-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726240 SCV001961060 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CEP104: BP4, BP7, BS2

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