ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.794del (p.Lys265fs)

dbSNP: rs1581742615
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029926 SCV001192722 pathogenic Leber congenital amaurosis 15 2019-06-06 no assertion criteria provided clinical testing

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