ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1572C>T (p.Pro524=)

gnomAD frequency: 0.00002  dbSNP: rs760682477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174219 SCV000225484 uncertain significance not provided 2014-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000633153 SCV000754367 likely benign Hereditary hemorrhagic telangiectasia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298214 SCV003996931 likely benign Cardiovascular phenotype 2023-05-26 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.

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