ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=)

gnomAD frequency: 0.00006  dbSNP: rs774844255
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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) RCV000595288 SCV000705009 uncertain significance not provided 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000595288 SCV004354519 likely benign not provided 2023-07-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024768 SCV004967839 likely benign Inborn genetic diseases 2023-10-25 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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