ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.2498G>A (p.Ser833Asn)

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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 RCV005015573 SCV005642048 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-02-03 criteria provided, single submitter clinical testing

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