ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2052A>G (p.Pro684=)

gnomAD frequency: 0.00003  dbSNP: rs775271322
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550528 SCV000652250 benign Neonatal-onset encephalopathy with rigidity and seizures 2025-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001571933 SCV001796494 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing

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