ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.735A>T (p.Arg245=)

gnomAD frequency: 0.00013  dbSNP: rs143977255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723714 SCV000109771 uncertain significance not provided 2013-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000186609 SCV000166883 benign not specified 2014-04-04 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 RCV001079876 SCV000755858 likely benign Adenylosuccinate lyase deficiency 2025-02-02 criteria provided, single submitter clinical testing

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