ClinVar Miner

Submissions for variant NM_005631.5(SMO):c.2093C>G (p.Pro698Arg)

gnomAD frequency: 0.00168  dbSNP: rs116640950
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000883938 SCV001027280 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000883938 SCV001770889 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327)
PreventionGenetics, part of Exact Sciences RCV003925211 SCV004742644 likely benign SMO-related condition 2022-04-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI RCV000122074 SCV000086289 not provided not specified 2013-09-19 no assertion provided reference population

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