ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.661C>T (p.Arg221Cys)

dbSNP: rs182963279
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000615829 SCV000713358 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing p.Arg221Cys in exon 6 of ILDR1: This variant is not expected to have clinical si gnificance because it has been identified in 0.3% (65/22550) of South Asian chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs182963279).
GeneDx RCV001731807 SCV001982711 uncertain significance not provided 2021-09-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001731807 SCV004259580 likely benign not provided 2024-10-31 criteria provided, single submitter clinical testing

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