ClinVar Miner

Submissions for variant NM_015114.3(ANKLE2):c.2502C>T (p.Leu834=)

gnomAD frequency: 0.00100  dbSNP: rs375883345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913422 SCV001058570 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970391 SCV004779670 likely benign ANKLE2-related disorder 2020-01-31 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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