ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.460C>G (p.Gln154Glu)

dbSNP: rs773976897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591520 SCV000702641 uncertain significance not provided 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019017 SCV005643951 uncertain significance Joubert syndrome 7; Meckel syndrome, type 5; COACH syndrome 3 2024-04-07 criteria provided, single submitter clinical testing

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