ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1010+18A>G

gnomAD frequency: 0.00168  dbSNP: rs201019280
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000123545 SCV000166884 benign not specified 2013-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055395 SCV002464222 benign Adenylosuccinate lyase deficiency 2025-01-28 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000123545 SCV001925890 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001699040 SCV001926926 likely benign not provided no assertion criteria provided clinical testing

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