ClinVar Miner

Submissions for variant NM_001312909.2(FAM111A):c.1531T>C (p.Tyr511His)

dbSNP: rs587777012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000050211 SCV000082787 pathogenic Autosomal dominant Kenny-Caffey syndrome 2013-06-06 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000050211 SCV000244020 uncertain significance Autosomal dominant Kenny-Caffey syndrome 2013-06-27 no assertion criteria provided literature only

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