ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.808G>A (p.Val270Ile)

gnomAD frequency: 0.00740  dbSNP: rs111694017
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954939 SCV001101606 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV000954939 SCV002009658 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954939 SCV002545567 benign not provided 2023-12-01 criteria provided, single submitter clinical testing SMO: BS1, BS2
ITMI RCV000122083 SCV000086298 not provided not specified 2013-09-19 no assertion provided reference population

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