ClinVar Miner

Submissions for variant NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) (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, Partners HealthCare 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 ( jects/SNP; rs114464909)."
GeneDx RCV000958700 SCV000723700 benign not provided 2019-01-29 criteria provided, single submitter clinical testing
Invitae RCV000958700 SCV001105572 benign not provided 2019-12-31 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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