ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.594T>C (p.Ser198=)

gnomAD frequency: 0.00002  dbSNP: rs764044384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447448 SCV001650513 likely benign Cone-rod dystrophy 13; Leber congenital amaurosis 6 2024-01-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706167 SCV005218389 likely benign not provided criteria provided, single submitter not provided

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