ClinVar Miner

Submissions for variant NM_014140.4(SMARCAL1):c.2712G>A (p.Glu904=)

gnomAD frequency: 0.00009  dbSNP: rs150767214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537524 SCV000636846 likely benign Schimke immuno-osseous dysplasia 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000537524 SCV002807871 likely benign Schimke immuno-osseous dysplasia 2022-01-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003979972 SCV004791930 likely benign SMARCAL1-related disorder 2022-12-19 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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