ClinVar Miner

Submissions for variant NM_001009994.3(RIPPLY2):c.96-4G>A

gnomAD frequency: 0.18347  dbSNP: rs2298290
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001514430 SCV001722274 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001514430 SCV001834291 benign not provided 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796535 SCV002033632 benign Spondylocostal dysostosis 6, autosomal recessive 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980523 SCV004800613 benign RIPPLY2-related disorder 2019-09-17 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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