ClinVar Miner

Submissions for variant NM_001129.5(AEBP1):c.2218-37dup

gnomAD frequency: 1.00000  dbSNP: rs11377645
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001548974 SCV001769001 benign Ehlers-Danlos syndrome, classic-like, 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001709737 SCV001938816 benign not provided 2018-07-14 criteria provided, single submitter clinical testing

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