ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.100-6C>A

gnomAD frequency: 0.00001  dbSNP: rs539027647
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001521638 SCV001731014 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256817 SCV002535429 benign Hereditary cancer-predisposing syndrome 2021-06-03 criteria provided, single submitter curation
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) RCV003233035 SCV003930419 benign Pituitary adenoma 5, multiple types 2023-05-10 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003931134 SCV004738178 likely benign AIP-related disorder 2019-09-25 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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