ClinVar Miner

Submissions for variant NM_001349338.3(FOXP1):c.1553G>A (p.Ser518Asn)

dbSNP: rs2107200789
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788526 SCV001712179 pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome 2021-05-13 no assertion criteria provided clinical testing

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