ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)

dbSNP: rs1553897738
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334195 SCV001526975 pathogenic Neuroblastoma, susceptibility to, 2 2018-08-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This variant has been previously reported as disease-causing in multiple patients with congenital central hypoventilation syndrome [PMID 15657873, 19058226, 12640453, 28371199]

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