ClinVar Miner

Submissions for variant NM_015570.4(AUTS2):c.2664C>T (p.Asp888=)

gnomAD frequency: 0.00062  dbSNP: rs146682239
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872530 SCV001014354 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000872530 SCV001765519 likely benign not provided 2021-04-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930397 SCV004738755 likely benign AUTS2-related disorder 2020-02-21 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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