ClinVar Miner

Submissions for variant NM_024989.4(PGAP1):c.289del (p.Ser97fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital RCV003228789 SCV003925663 likely pathogenic Intellectual disability, autosomal recessive 42 criteria provided, single submitter clinical testing

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