ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.555G>A (p.Pro185=)

gnomAD frequency: 0.00001  dbSNP: rs187674997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012067 SCV002227010 likely benign not provided 2024-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004043850 SCV002649453 benign not specified 2020-07-30 criteria provided, single submitter clinical testing This alteration is classified as 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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