ClinVar Miner

Submissions for variant NM_017934.7(PHIP):c.1848A>C (p.Gln616His)

gnomAD frequency: 0.00008  dbSNP: rs200020269
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093184 SCV001250040 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001093184 SCV003251224 benign not provided 2025-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002557968 SCV003709333 likely benign Inborn genetic diseases 2022-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV003132224 SCV003812847 uncertain significance PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 2020-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001093184 SCV005189137 uncertain significance not provided criteria provided, single submitter not provided

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