ClinVar Miner

Submissions for variant NM_000391.4(TPP1):c.465T>C (p.His155=)

gnomAD frequency: 0.00002  dbSNP: rs778947332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002315415 SCV000849282 likely benign Inborn genetic diseases 2017-04-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV001486062 SCV001690511 likely benign not provided 2023-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001486062 SCV001940237 benign not provided 2015-09-15 criteria provided, single submitter clinical testing

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