ClinVar Miner

Submissions for variant NM_177939.3(P4HTM):c.482A>C (p.His161Pro)

dbSNP: rs1576606484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850578 SCV000992799 uncertain significance Intellectual disability 2017-12-31 criteria provided, single submitter clinical testing
OMIM RCV000787323 SCV000926253 pathogenic Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 2019-07-12 no assertion criteria provided literature only

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