ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.5282del (p.Pro1761fs)

dbSNP: rs1555652826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000677280 SCV000803413 likely pathogenic not provided 2018-06-21-05:00 criteria provided, single submitter clinical testing

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