ClinVar Miner

Submissions for variant NM_020754.4(ARHGAP31):c.3802G>A (p.Gly1268Arg)

gnomAD frequency: 0.00069  dbSNP: rs149658506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000914253 SCV001059420 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000914253 SCV001742095 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000914253 SCV001799003 likely benign not provided no assertion criteria provided clinical testing

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