ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=)

dbSNP: rs398124356
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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) RCV000082004 SCV000113939 uncertain significance not provided 2013-10-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055217 SCV002452420 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-08-22 criteria provided, single submitter clinical testing

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