ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2201A>G (p.His734Arg)

dbSNP: rs886043438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000329770 SCV000340134 uncertain significance not provided 2016-03-15 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989520 SCV004807700 uncertain significance Schimke immuno-osseous dysplasia 2024-03-29 criteria provided, single submitter clinical testing

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