ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.996A>G (p.Thr332=)

gnomAD frequency: 0.75024  dbSNP: rs2595701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548973 SCV001769000 benign Ehlers-Danlos syndrome, classic-like, 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001597306 SCV001831299 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001597306 SCV002430215 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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