ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.225A>G (p.Ser75=)

gnomAD frequency: 0.00098  dbSNP: rs146402126
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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 RCV000217819 SCV000270281 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ser75Ser in Exon 02 of ILDR1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (12/3738) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS; dbSNP rs146402126).
GeneDx RCV001589114 SCV001826215 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001589114 SCV002404172 benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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