ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.1939C>T (p.Pro647Ser)

gnomAD frequency: 0.00579  dbSNP: rs34545616
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514158 SCV000609958 likely benign not provided 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV000514158 SCV001115921 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514158 SCV004161062 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing SMO: BS2
ITMI RCV000122437 SCV000086286 not provided not specified 2013-09-19 no assertion provided reference population

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