ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.89-4del

gnomAD frequency: 0.00001  dbSNP: rs755970186
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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 RCV001036446 SCV001199811 likely benign not provided 2023-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030982 SCV002683645 uncertain significance not specified 2021-10-14 criteria provided, single submitter clinical testing The c.89-4delG intronic variant, located in intron 2 of the RINT1 gene, results from a deletion of one nucleotide within intron 2 of the RINT1 gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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