ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.726G>A (p.Ala242=)

gnomAD frequency: 0.00814  dbSNP: rs114464909
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Total submissions: 4
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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 RCV000037119 SCV000060776 benign not specified 2012-05-07 criteria provided, single submitter clinical testing "Ala242Ala in Exon 06 of ILDR1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 5.1% (6/118) of chro mosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/pro jects/SNP; rs114464909)."
GeneDx RCV000958700 SCV000723700 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Invitae RCV000958700 SCV001105572 benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000958700 SCV001144237 benign not provided 2019-07-16 criteria provided, single submitter clinical testing

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