ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3220+17A>C

gnomAD frequency: 0.00001  dbSNP: rs1204073957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334833 SCV001527801 uncertain significance COACH syndrome 1 2018-03-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070192 SCV002372834 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-09-11 criteria provided, single submitter clinical testing

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