ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1495del (p.Asp499fs)

dbSNP: rs2041856807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334745 SCV001527674 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2018-10-15 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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