ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1206C>T (p.Asp402=)

gnomAD frequency: 0.01413  dbSNP: rs7807895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516369 SCV000612488 benign not specified 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000543747 SCV000652218 benign Neonatal-onset encephalopathy with rigidity and seizures 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001584229 SCV001819137 likely benign not provided 2021-08-30 criteria provided, single submitter clinical testing

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