ClinVar Miner

Submissions for variant NM_007187.5(WBP4):c.499del (p.Thr167fs)

dbSNP: rs2541856897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV003334354 SCV003922044 likely pathogenic Neurodevelopmental disorder 2023-05-01 criteria provided, single submitter clinical testing
OMIM RCV004577573 SCV005061593 not provided Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 2024-06-18 no assertion provided literature only

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