ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.702-7T>C

gnomAD frequency: 0.00045  dbSNP: rs201509960
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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) RCV000723924 SCV000202139 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000186673 SCV000240239 benign not specified 2014-06-19 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.
Invitae RCV001081511 SCV000755861 likely benign Adenylosuccinate lyase deficiency 2024-01-30 criteria provided, single submitter clinical testing

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