ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3310-7T>G

gnomAD frequency: 0.00003  dbSNP: rs373298179
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867921 SCV001009195 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-21 criteria provided, single submitter clinical testing

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