ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.1104-82C>T

gnomAD frequency: 0.80982  dbSNP: rs4133017
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986177 SCV001135086 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542914 SCV001761326 benign Joubert syndrome 7 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001542915 SCV001761327 benign Meckel syndrome, type 5 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000986177 SCV001860355 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000986177 SCV005292023 benign not provided criteria provided, single submitter not provided

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