ClinVar Miner

Submissions for variant NM_003924.3(PHOX2B):c.33C>T (p.Ser11=) (rs773982008)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643956 SCV000765643 likely benign Congenital central hypoventilation 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020201 SCV001181649 likely benign Hereditary cancer-predisposing syndrome 2018-10-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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