ClinVar Miner

Submissions for variant NM_001044393.3(MUC1):c.295C>T (p.Arg99Cys)

gnomAD frequency: 0.00015  dbSNP: rs375090196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332731 SCV001525128 uncertain significance Tubulointerstitial kidney disease, autosomal dominant, 2 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004035749 SCV005012547 likely benign Inborn genetic diseases 2024-01-04 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.
Breakthrough Genomics, Breakthrough Genomics RCV004691422 SCV005186930 uncertain significance not provided criteria provided, single submitter not provided

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