ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3617-13dup

dbSNP: rs750499169
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000300099 SCV000397748 uncertain significance Nephronophthisis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000338644 SCV000397749 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398320 SCV000397750 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001523473 SCV001733179 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-22 criteria provided, single submitter clinical testing

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