ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.342C>T (p.Ala114=)

gnomAD frequency: 0.00009  dbSNP: rs760053992
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000262485 SCV000334451 uncertain significance not provided 2015-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000262485 SCV001039599 likely benign not provided 2024-11-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000262485 SCV001153338 uncertain significance not provided 2018-11-01 criteria provided, single submitter clinical testing

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