ClinVar Miner

Submissions for variant NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=)

gnomAD frequency: 0.25423  dbSNP: rs9353143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001511803 SCV001719106 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001511803 SCV001757137 benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796533 SCV002033631 benign Spondylocostal dysostosis 6, autosomal recessive 2021-11-07 criteria provided, single submitter clinical testing

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