ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) (rs1568070621)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735283 SCV000854436 pathogenic Autistic disorder of childhood onset; Seizures; Cafe-au-lait spot; Joint laxity criteria provided, single submitter clinical testing

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