ClinVar Miner

Submissions for variant NM_177939.3(P4HTM):c.949del (p.Val317fs)

dbSNP: rs1576608329
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000787326 SCV003816571 uncertain significance Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 2019-11-07 criteria provided, single submitter clinical testing
OMIM RCV000787326 SCV000926256 pathogenic Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 2019-07-12 no assertion criteria provided literature only

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