ClinVar Miner

Submissions for variant NM_003924.4(PHOX2B):c.771_779del (p.Ala258_Ala260del)

dbSNP: rs764220516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538069 SCV000644050 likely benign Haddad syndrome 2024-10-29 criteria provided, single submitter clinical testing
GeneDx RCV004760573 SCV005371384 uncertain significance not provided 2024-03-20 criteria provided, single submitter clinical testing In-frame deletion of 3 amino acids in a repetitive region with no known function; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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