ClinVar Miner

Submissions for variant NM_032322.4(RNF135):c.1015del (p.Val339fs)

dbSNP: rs724159978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Liping Wei Laboratory, Peking University RCV000754673 SCV000804765 pathogenic Autism spectrum disorder 2018-08-01 criteria provided, single submitter research
OMIM RCV000001028 SCV000021178 uncertain significance Macrocephaly, macrosomia, facial dysmorphism syndrome 2007-08-01 no assertion criteria provided literature only

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