ClinVar Miner

Submissions for variant NM_032119.4(ADGRV1):c.12350_12353dup (p.Phe4118fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005037715 SCV005672723 likely pathogenic Usher syndrome type 2C; Febrile seizures, familial, 4 2024-02-05 criteria provided, single submitter clinical testing

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