ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2490C>T (p.Ala830=) (rs9924755)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PXE International RCV000499066 SCV000589015 benign Pseudoxanthoma elasticum criteria provided, single submitter research

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