ClinVar Miner

Submissions for variant NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)

gnomAD frequency: 0.00063  dbSNP: rs138724933
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000246270 SCV000312478 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296818 SCV000397745 uncertain significance Joubert syndrome 7 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000349270 SCV000397746 uncertain significance Meckel syndrome, type 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV000399116 SCV000397747 uncertain significance Nephronophthisis 8 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000861085 SCV001001304 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001675738 SCV001895106 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675738 SCV004139375 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing RPGRIP1L: BP4, BP7
Natera, Inc. RCV001271321 SCV001452406 likely benign Familial aplasia of the vermis 2020-04-24 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000246270 SCV001920124 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001675738 SCV001973726 likely benign not provided no assertion criteria provided clinical testing

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