ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.742-7_742-5del

dbSNP: rs779710402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609854 SCV000725324 likely benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000866616 SCV001007738 benign Danon disease 2023-12-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000866616 SCV002806016 likely benign Danon disease 2021-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162730 SCV003913013 likely benign Cardiovascular phenotype 2023-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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