ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=)

gnomAD frequency: 0.00009  dbSNP: rs139445683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000296065 SCV000342137 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080721 SCV001042061 likely benign Schimke immuno-osseous dysplasia 2025-01-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001080721 SCV002076325 likely benign Schimke immuno-osseous dysplasia 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003940048 SCV004747209 likely benign SMARCAL1-related disorder 2019-05-20 no assertion criteria provided 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).

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