ClinVar Miner

Submissions for variant NM_005356.5(LCK):c.1022T>C (p.Leu341Pro)

dbSNP: rs587777335
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000114989 SCV000148898 pathogenic Severe combined immunodeficiency due to LCK deficiency 2012-11-01 no assertion criteria provided literature only

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