ClinVar Miner

Submissions for variant NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) (rs104893888)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000659642 SCV000781485 pathogenic Levy-Hollister syndrome 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000007970 SCV000028175 pathogenic Congenital absence of salivary gland 2007-03-01 no assertion criteria provided literature only

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