ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.1191+9C>T

gnomAD frequency: 0.00047  dbSNP: rs371706528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704325 SCV000528114 likely benign not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000865875 SCV001006901 likely benign Adenylosuccinate lyase deficiency 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912727 SCV004734906 likely benign ADSL-related disorder 2024-07-18 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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