ClinVar Miner

Submissions for variant NM_002582.4(PARN):c.1148C>T (p.Ala383Val) (rs786200999)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bone Marrow Failure laboratory,Queen Mary University London RCV000162313 SCV000206797 pathogenic Dyskeratosis congenita 2015-01-28 no assertion criteria provided research
OMIM RCV000170484 SCV000222911 pathogenic Dyskeratosis congenita, autosomal recessive 6 2015-05-01 no assertion criteria provided literature only

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